International retrospective natural history study of

LMNA early onset laminopathies muscular dystrophy striated muscle

Journal

Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125

Informations de publication

Date de publication:
Jul 2021
Historique:
received: 23 12 2020
revised: 23 12 2020
accepted: 02 02 2021
entrez: 9 7 2021
pubmed: 10 7 2021
medline: 10 7 2021
Statut: epublish

Résumé

Muscular dystrophies due to heterozygous pathogenic variants in

Identifiants

pubmed: 34240052
doi: 10.1093/braincomms/fcab075
pii: fcab075
pmc: PMC8260964
doi:

Types de publication

Journal Article

Langues

eng

Pagination

fcab075

Informations de copyright

© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

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Auteurs

Rabah Ben Yaou (R)

Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France.

Pomi Yun (P)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Ivana Dabaj (I)

APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France.
INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France.

Gina Norato (G)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Sandra Donkervoort (S)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Hui Xiong (H)

INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France.

Andrés Nascimento (A)

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Lorenzo Maggi (L)

Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, CIBERER - ISC III, Barcelona, Spain.

Anna Sarkozy (A)

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital Trust, London, UK.

Soledad Monges (S)

Servicio de Neurología, Hospital de Pediatría J.P. Garrahan, Buenos Aires, Argentina.

Marta Bertoli (M)

Northern Genetics Service, The Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.

Hirofumi Komaki (H)

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

Michèle Mayer (M)

APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Department of Neuropediatrics, Hôpital Armand Trousseau, Paris, France.

Eugenio Mercuri (E)

Paediatric Neurology, Policlinico Gemelli, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Edmar Zanoteli (E)

Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

Claudia Castiglioni (C)

Pediatric Neurology Department, Clínica Las Condes, Santiago, Chile.

Chiara Marini-Bettolo (C)

John Walton Muscular Dystrophy Research Centre, Institute of Integrated Laboratory Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

Adele D'Amico (A)

Unit of Muscular and Neurodegenerative diseases, Department of Neurological and Psychiatric science,s Bambino Gesù Children's Hospital, Rome, Italy.

Nicolas Deconinck (N)

Paediatric Neurology Department and neuromuscular Center, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.

Isabelle Desguerre (I)

APHP-Centre - Université de Paris, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Necker-Enfants Malades Hospital, Paris, France.

Ricardo Erazo-Torricelli (R)

Neurología Pediátrica, Unidad Neuromuscular, Hospital Luis Calvo Mackenna, Clínica Alemana de Santiago, Santiago, Chile.

Juliana Gurgel-Giannetti (J)

Department of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.

Akihiko Ishiyama (A)

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

Karin S Kleinsteuber (KS)

Neurología Pediátrica Hospital Roberto del Río- Universidad de Chile - Clínica Las Condes Santiago, Chile.

Emmanuelle Lagrue (E)

CHRU de Tours, Université François Rabelais de Tours, INSERM U1253, Tours, France.

Vincent Laugel (V)

Department of neuropediatrics, CHU Strasbourg- Hautepierre, Strasbourg, France.

Sandra Mercier (S)

Service de Génétique médicale, INSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du Thorax, Nantes, France.

Sonia Messina (S)

Unit of Neurology, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Luisa Politano (L)

Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy.

Monique M Ryan (MM)

Children's Neurosciences Centre, Royal Children's Hospital, Victoria, Australia.

Pascal Sabouraud (P)

Service de Pédiatrie A, Neurologie pédiatrique, CHU de Reims, American Memorial Hospital, Reims, France.

Ulrike Schara (U)

Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Children's Hospital 1, University of Duisburg-Essen, Essen, Germany.

Gabriele Siciliano (G)

Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.

Liliana Vercelli (L)

Department of Neuroscience, Center for Neuromuscular Diseases, University of Turin, Turin, Italy.

Thomas Voit (T)

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK.

Grace Yoon (G)

Divisions of Neurology and Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Rachel Alvarez (R)

Congenital Muscle Disease International Registry (CMDIR), Cure CMD, Lakewood, CA, USA.

Francesco Muntoni (F)

Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy.
National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK.

Tyler M Pierson (TM)

Departments of Pediatrics and Neurology and the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

David Gómez-Andrés (D)

Pediatric Neurology (ERN-RND - EURO-NMD), Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.

A Reghan Foley (A)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Susana Quijano-Roy (S)

APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France.
INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), France.

Carsten G Bönnemann (CG)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Gisèle Bonne (G)

Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France.
APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS France, ERN-Euro-NMD, Paris, France.

Classifications MeSH