第一单位：
Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.;Unidad de Enfermedades Neuromusculares. Servicio de Neurologia y Neurofisiologia, Hospital Virgen del Rocio, Sevilla, Spain.
作者：
Macarena,Cabrera-Serrano [1]
;
Laure,Caccavelli [2]
;
Marco,Savarese [3]
;
Anna,Vihola [4]
;
Manu,Jokela [5]
;
Mridul,Johari [3]
;
Thierry,Capiod [2]
;
Marine,Madrange [2]
;
Enrico,Bugiardini [6]
;
Stefen,Brady [7]
;
Rosaline,Quinlivan [8]
;
Ashirwad,Merve [8]
;
Renata,Scalco [8]
;
David,Hilton-Jones [9]
;
Henry,Houlden [6]
;
Halil Ibrahim,Aydin [10]
;
Serdar,Ceylaner [11]
;
Sarah,Drewes [12]
;
Jerry,Vockley [13]
;
Rhonda L,Taylor [14]
;
Chiara,Folland [14]
;
Aasta,Kelly [15]
;
Hayley,Goullee [14]
;
Emil,Ylikallio [16]
;
Mari,Auranen [17]
;
Henna,Tyynismaa [18]
;
Bjarne,Udd [4]
;
Alistair R R,Forrest [14]
;
Mark R,Davis [19]
;
Drago,Bratkovic [20]
;
Nicholas,Manton [21]
;
Thomas,Robertson [22]
;
Cullen,O'Gorman [23]
;
Pamela,McCombe [24]
;
Nigel G,Laing [25]
;
Liza,Phillips [26]
;
Pascale,de Lonlay [2]
;
Gianina,Ravenscroft [14]
作者单位：
Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.;Unidad de Enfermedades Neuromusculares. Servicio de Neurologia y Neurofisiologia, Hospital Virgen del Rocio, Sevilla, Spain.
[1]
Inserm U1151, Institut Necker Enfants-Malades, Reference Center of Inherited Metabolic Diseases and MetabERN, Necker-Enfants-Malades Hospital, Paris University, Paris, France.
[2]
Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
[3]
Folkhälsan Research Center, Helsinki, Finland and Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.;Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.
[4]
Neuromuscular Research Center, Department of Neurology, Tampere University and University Hospital, Tampere, Finland.;Neurocenter, Department of Neurology, Clinical Neurosciences, Turku University Hospital and University of Turku, Turku, Finland.
[5]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
[6]
Department of Neurology, Southmead Hospital, Bristol, UK.
[7]
MRC Centre for Neuromuscular Diseases, University College Hospitals, London, UK.
[8]
Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
[9]
Department of Pediatrics, Baskent University, Ankara, Turkey.
[10]
Intergen Genetic Diagnosis and Research Center, Ankara, Turkey.
[11]
UPMC Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania, USA.
[12]
University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
[13]
Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.
[14]
Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.
[15]
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.;Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki 00290 Helsinki, Finland.
[16]
Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
[17]
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki 00290 Helsinki, Finland.;Neuroscience Center, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
[18]
Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, WA, Australia.
[19]
Metabolic Clinic, Women and Children's Hospital, North Adelaide, SA, Australia.
[20]
SA Pathology, Women and Children's Hospital, North Adelaide, SA, Australia.
[21]
Anatomical Pathology, Queensland Pathology, Brisbane, Queensland, Australia.
[22]
Centre for Clinical Research, The University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia.
[23]
Centre for Clinical Research, The University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia.;Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
[24]
Harry Perkins Institute of Medical Research, Nedlands, WA, Australia.;Centre of Medical Research, University of Western Australia, Nedlands, WA, Australia.;Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, WA, Australia.
[25]
SA Pathology, Women and Children's Hospital, North Adelaide, SA, Australia.;The University of Adelaide, Adelaide, SA, Australia.
[26]
DOI
10.1093/brain/awab484
PMID
34957489
发布时间
2025-05-30
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