Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Oct 2023
Historique:
received: 01 03 2023
accepted: 14 06 2023
medline: 17 8 2023
pubmed: 17 8 2023
entrez: 17 8 2023
Statut: epublish

Résumé

Pathogenic variants in the valosin-containing protein ( A 6-item clinical score was developed to evaluate the phenotypic level of evidence to support the pathogenicity of the novel variants. Each item is allocated a value, a score ranging from 0.5 to 5.5 points. A receiver-operating characteristic curve was used to identify a cutoff value of 3 to consider a variant as high likelihood disease associated. The scoring system results were confronted with results of in vitro ATPase activity assays and with in silico analysis. All variants were missense, except for one small deletion-insertion, 18 led to amino acid changes within the N and D1 domains, and 13 increased the enzymatic activity. The clinical score coincided with the functional studies in 17 of 19 variants and with the in silico analysis in 12 of 19. For 12 variants, the 3 predictive tools agreed, and for 7 variants, the predictive tools disagreed. The pooled data supported the pathogenicity of 13 of 19 novel VCP variants identified in the study. This study provides data to support pathogenicity of 14 of 19 novel

Sections du résumé

Background and Objectives UNASSIGNED
Pathogenic variants in the valosin-containing protein (
Methods UNASSIGNED
A 6-item clinical score was developed to evaluate the phenotypic level of evidence to support the pathogenicity of the novel variants. Each item is allocated a value, a score ranging from 0.5 to 5.5 points. A receiver-operating characteristic curve was used to identify a cutoff value of 3 to consider a variant as high likelihood disease associated. The scoring system results were confronted with results of in vitro ATPase activity assays and with in silico analysis.
Results UNASSIGNED
All variants were missense, except for one small deletion-insertion, 18 led to amino acid changes within the N and D1 domains, and 13 increased the enzymatic activity. The clinical score coincided with the functional studies in 17 of 19 variants and with the in silico analysis in 12 of 19. For 12 variants, the 3 predictive tools agreed, and for 7 variants, the predictive tools disagreed. The pooled data supported the pathogenicity of 13 of 19 novel VCP variants identified in the study.
Discussion UNASSIGNED
This study provides data to support pathogenicity of 14 of 19 novel

Identifiants

DOI: 10.1212/NXG.0000000000200093 PMID: 37588275 PMC: PMC10427110
pubmed: 37588275
doi: 10.1212/NXG.0000000000200093
pii: NXG-2023-000033
pmc: PMC10427110
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e200093

Informations de copyright

Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Déclaration de conflit d'intérêts

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosure.

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Auteurs

Marianela Schiava (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0002-2709-265X

Chiseko Ikenaga (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0003-2264-1696

Ana Topf (A)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Marta Caballero-Ávila (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-9850-8504

Tsui-Fen Chou (TF)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Shan Li (S)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Feng Wang (F)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Jil Daw (J)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Tanya Stojkovic (T)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0002-4054-2838

Rocio Villar-Quiles (R)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Ichizo Nishino (I)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-9452-112X

Michio Inoue (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0003-2757-3266

Yukako Nishimori (Y)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Yoshihiko Saito (Y)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Masahisa Katsuno (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-9453-9311

Seiya Noda (S)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Chihiro Ito (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Mieko Otsuka (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Sruthi Nahir (S)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Georgios Manousakis (G)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

David Walk (D)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-7941-1993

Colin Quinn (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0003-0618-5854

Lindsay Alfano (L)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Zarife Sahenk (Z)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Giorgio Tasca (G)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0003-0849-9144

Mauro Monforte (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Mario Sabatelli (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Giulia Bisogni (G)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Anders Oldfors (A)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Anna Rydeliu (A)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0002-6742-1825

Endre Pal (E)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-6525-0754

Carmen Paradas (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Beatriz Velez (B)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Jan L De Bleecker (JL)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Maria Elena Farugia (ME)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Cheryl Longman (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Matthew B Harms (MB)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Stuart Ralston (S)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0002-2804-7586

Edmar Zanoteli (E)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Andre Macedo Serafim da Silva (A)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Javier Sotoca (J)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0003-3400-1434

Raul Juntas-Morales (R)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Jorge Bevilacqua (J)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0002-0525-9308

Mireya Balart (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Stuart Talbot (S)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Volker Straub (V)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.
ORCID: 0000-0001-9046-3540

Michela Guglieri (M)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Chiara Marini-Bettolo (C)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Jordi Diaz-Manera (J)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

Conrad Chris Weihl (CC)

From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological Engineering (T.-F.C., S.L., F.W.), California Institute of Technology, Pasadena; Department of Neurology (J.D.), Washington University School of Medicine, St. Louis, MO; APHP Centre de référence des maladies neuromusculaires Institut de Myologie Sorbonne Université APHP Hôpital Pitié-Salpêtrière Paris (T.S., R.V.-Q.), France; Department of Neuromuscular Research (I.N., M.I., Y.N., Y.S.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); Departments of Neurology (M.K., S. Noda) and Clinical Research Education (M.K., S. Noda), Nagoya University Graduate School of Medicine; Department of Neurology (M.K., S. Noda), National Hospital Organization Suzuka Hospital; Department of Neurology (C. Ito), Aichi Medical University School of Medicine; Department of Neurology (M.O.), International University of Health and Welfare Hospital, Japan; Department of Neurology Sree Chitra Tirunal Institute for Medical Sciences and Technology (S. Nahir), Thiruvananthapuram, Kerala, India; Department of Neurology (G.M., D.W.), University of Minnesota, Minneapolis; Department of Neurology (C.Q.), University of Pennsylvania, Perelman School of Medicine, Philadelphia; Center for Gene Therapy (L.A., Z.S.), The Abigail Wexner Research Institute at Nationwide Children's Hospital; Department of Pediatrics (L.A., Z.S.), The Ohio State University College of Medicine, Columbus; Unità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A Gemelli IRCCS (G.T., M.M.); Centro clinico NEMO- Fondazione policlinico universitario A. Gemelli IRCCS (M. Sabatelli, G.B.), Rome, Italy; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg (A.O.); Department of Neurology (A.R.), Clinical Sciences Lund, Lund University, Sweden; Departments of Neurology and Neuropathology (E.P.), University of Pécs, Hungary; Neurology Department, Neuromuscular Disorders Unit, Hospital Universitario Virgen del Rocío (C.P., B.V.); Instituto de Biomedicina de Sevilla (C.P.); Centre for Biomedical Network Research on Neurodegenerative Disorders (CIBERNED) Instituto de Salud Carlos III (C.P., B.V.), Madrid, Spain; Neurology Department and Neuromuscular Reference Centre (J.L.D.B.), Gent, Blegium, part of the ERN NMD; Institute of Neurological Sciences (M.E.F.); West Scotland Regional Genetics Service (C.L.), Queen Elizabeth University Hospital, Glasgow, United Kingdom; Columbia University Irving Medical Centre (M.B.H.), New York; Centre for Genomic and Experimental Medicine (S.R.), Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital Edinburgh, United Kingdom; Department of Neurology (E.Z., A.M.S.S.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neurology Service (J.S., R.J.-M.), Neuromuscular Disorders Unit, Hospital Universitari Vall d'Hebron, Barcelona, Spain; Departamento de Neurología y Neurocirugía (J.B.), HCUCH, Departamento de Anatomía y Medicina Legal, Facultad de Medicina, Universidad de Chile; Departamento de Neurología y Neurocirugía Clínica (M.B.), Clínica Dávila, Santiago Chile; Newcastle University (S.T.), Newcastle Upon Tyne, United Kingdom; and Department of Neurology (C.C.W.), Washington University School of Medicine, Saint Louis, MO.

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