第一单位：
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
作者：
Manuela,Wiessner [1]
;
Andreas,Roos [2]
;
Christopher J,Munn [3]
;
Ranjith,Viswanathan [1]
;
Tamieka,Whyte [4]
;
Dan,Cox [5]
;
Benedikt,Schoser [1]
;
Caroline,Sewry [6]
;
Helen,Roper [7]
;
Rahul,Phadke [8]
;
Chiara,Marini Bettolo [5]
;
Rita,Barresi [9]
;
Richard,Charlton [9]
;
Carsten G,Bönnemann [10]
;
Osório,Abath Neto [10]
;
Umbertina C,Reed [11]
;
Edmar,Zanoteli [11]
;
Cristiane,Araújo Martins Moreno [11]
;
Birgit,Ertl-Wagner [12]
;
Rolf,Stucka [1]
;
Christian,De Goede [13]
;
Tamiris,Borges da Silva [3]
;
Denisa,Hathazi [14]
;
Margherita,Dell'Aica [14]
;
René P,Zahedi [14]
;
Simone,Thiele [1]
;
Juliane,Müller [5]
;
Helen,Kingston [15]
;
Susanna,Müller [16]
;
Elizabeth,Curtis [17]
;
Maggie C,Walter [1]
;
Tim M,Strom [18]
;
Volker,Straub [5]
;
Kate,Bushby [5]
;
Francesco,Muntoni [4]
;
Laura E,Swan [3]
;
Hanns,Lochmüller [5]
;
Jan,Senderek [19]
作者单位：
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany.
[1]
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Leibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
[2]
Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown Street, Liverpool L69 3BX, UK.
[3]
UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.
[4]
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
[5]
UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK; Wolfson Centre for Inherited Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK.
[6]
Birmingham Heartlands Hospital, Heart of England NHS Foundation Trust, Birmingham B9 5SS, UK.
[7]
UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children, London WC1N 1EH, UK.
[8]
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK.
[9]
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20814, USA.
[10]
Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo, 01246-903 São Paulo, Brazil.
[11]
Institute for Clinical Radiology, Ludwig Maximilians University Munich, 81377 Munich, Germany.
[12]
Department of Paediatric Neurology, Royal Preston Hospital, Lancashire Teaching Hospitals NHS Foundation Trust, Preston PR2 9HT, UK; Faculty of Health and Medicine, Lancaster University, Lancaster LA1 4YG, UK.
[13]
Leibniz-Institut für Analytische Wissenschaften (ISAS), 44227 Dortmund, Germany.
[14]
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.
[15]
Institute of Pathology, Ludwig-Maximilians University Munich, 80337 Munich, Germany.
[16]
Department of Cellular Pathology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK.
[17]
Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
[18]
Friedrich-Baur-Institute, Department of Neurology, Ludwig Maximilians University Munich, 80336 Munich, Germany. Electronic address: jan.senderek@med.uni-muenchen.de.
[19]
DOI
10.1016/j.ajhg.2017.01.024
PMID
28190456
发布时间
2025-05-30
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