Pathogenic

Journal

Science translational medicine
ISSN: 1946-6242
Titre abrégé: Sci Transl Med
Pays: United States
ID NLM: 101505086

Informations de publication

Date de publication:
03 Apr 2024
Historique:
medline: 3 4 2024
pubmed: 3 4 2024
entrez: 3 4 2024
Statut: ppublish

Résumé

Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast (

Identifiants

DOI: 10.1126/scitranslmed.adg2841 PMID: 38569017
pubmed: 38569017
doi: 10.1126/scitranslmed.adg2841
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadg2841

Auteurs

Sandra Donkervoort (S)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0001-6399-1444

Martijn van de Locht (M)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
ORCID: 0000-0001-8507-8015

Dario Ronchi (D)

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.

Janine Reunert (J)

Department of General Pediatrics, University of Münster, Münster, 48149, Germany.
ORCID: 0000-0001-7220-7594

Catriona A McLean (CA)

Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, 3004, Australia.
Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, 3168, Australia.
ORCID: 0000-0002-0302-5727

Maha Zaki (M)

Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
ORCID: 0000-0001-7840-0002

Rotem Orbach (R)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0002-1015-1529

Josine M de Winter (JM)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
ORCID: 0000-0002-4278-8735

Stefan Conijn (S)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
ORCID: 0000-0002-0860-7611

Daan Hoomoedt (D)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
ORCID: 0009-0006-6390-5853

Osorio Lopes Abath Neto (OLA)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0003-2787-5483

Francesca Magri (F)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, 20122, Italy.
ORCID: 0000-0001-8974-9453

Angela N Viaene (AN)

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, 19104 PA, USA.
ORCID: 0000-0001-6430-8360

A Reghan Foley (AR)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0003-2168-1119

Svetlana Gorokhova (S)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.
INSERM, U1251-MMG, Aix-Marseille Université, Marseille, 13009, France.
ORCID: 0000-0001-6870-4061

Véronique Bolduc (V)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0003-1690-9270

Ying Hu (Y)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0001-6393-540X

Nicole Acquaye (N)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Laura Napoli (L)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.
ORCID: 0000-0003-4607-8084

Julien H Park (JH)

Department of General Pediatrics, University Hospital Münster, Münster, 48149 Germany.
ORCID: 0000-0003-2305-9948

Kalyan Immadisetty (K)

Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.
ORCID: 0000-0001-8261-6770

Lee B Miles (LB)

School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.
ORCID: 0000-0002-2718-1353

Mona Essawi (M)

Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.

Salar McModie (S)

Department of Neurology, Alfred Health, Melbourne, Victoria, 3004, Australia.

Leonardo F Ferreira (LF)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
Department of Orthopaedic Surgery, Duke University School of Medicine, Durham, NC 27710, USA.

Simona Zanotti (S)

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.
ORCID: 0000-0003-4520-4966

Sarah B Neuhaus (SB)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0002-7739-1308

Livija Medne (L)

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Nagham ElBagoury (N)

Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
ORCID: 0000-0002-3826-9780

Kory R Johnson (KR)

Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0002-6693-3378

Yong Zhang (Y)

Bioinformatics Core, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.

Nigel G Laing (NG)

Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.
Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.
ORCID: 0000-0001-5111-3732

Mark R Davis (MR)

Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.
ORCID: 0000-0002-0626-9030

Robert J Bryson-Richardson (RJ)

School of Biological Sciences, Monash University, Melbourne, Victoria, 3800, Australia.
ORCID: 0000-0002-9501-8208

Darren T Hwee (DT)

Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.
ORCID: 0000-0002-3641-7348

James J Hartman (JJ)

Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.
ORCID: 0000-0001-8301-0199

Fady I Malik (FI)

Research and Development, Cytokinetics Inc., South San Francisco, CA 94080, USA.
ORCID: 0000-0002-5597-5759

Peter M Kekenes-Huskey (PM)

Department of Cell and Molecular Physiology, Loyola University, Chicago, IL 60153, USA.
ORCID: 0000-0001-7286-3022

Giacomo Pietro Comi (GP)

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20135, Italy.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Disease Unit, Milan, 20122, Italy.
ORCID: 0000-0002-1383-5248

Wessam Sharaf-Eldin (W)

Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
ORCID: 0000-0002-4728-9089

Thorsten Marquardt (T)

Department of General Pediatrics, University of Münster, Münster, 48149, Germany.
ORCID: 0000-0002-9982-2981

Gianina Ravenscroft (G)

Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, 6009, Australia.

Carsten G Bönnemann (CG)

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
ORCID: 0000-0002-5930-2324

Coen A C Ottenheijm (CAC)

Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, 1081 HV Netherlands.
ORCID: 0000-0002-8808-4813

Classifications MeSH