第一单位：
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
作者：
Rauan,Kaiyrzhanov [1]
;
Luke,Perry [2]
;
Clarissa,Rocca [1]
;
Maha S,Zaki [3]
;
Heba,Hosny [4]
;
Cristiane,Araujo Martins Moreno [5]
;
Rahul,Phadke [6]
;
Irina,Zaharieva [6]
;
Clara,Camelo Gontijo [5]
;
Christian,Beetz [7]
;
Veronica,Pini [6]
;
Mojtaba,Movahedinia [8]
;
Edmar,Zanoteli [5]
;
Stephanie,DiTroia [9]
;
Sandrine,Vuillaumier-Barrot [10]
;
Arnaud,Isapof [11]
;
Mohammad Yahya Vahidi,Mehrjardi [12]
;
Nasrin,Ghasemi [13]
;
Anna,Sarkozy [2]
;
Francesco,Muntoni [14]
;
Sandra,Whalen [15]
;
Barbara,Vona [16]
;
Henry,Houlden [1]
;
Reza,Maroofian [1]
作者单位：
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[1]
The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.;MRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD), London, UK.
[2]
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12622, Cairo, Egypt.
[3]
National Institute of Neuromotor System, Cairo, Egypt.;Diagnostic Department, Centogene GmbH, 18055, Rostock, Germany.
[4]
Department of Neurology, School of Medicine of Universidade de Sao Paulo, Sao Paulo, Brazil.
[5]
The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.
[6]
Diagnostic Department, Centogene GmbH, 18055, Rostock, Germany.
[7]
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[8]
Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
[9]
Service de Biochimie et génétique, APHP, Hôpital Bichat-Claude Bernard, 75018, Paris, France.
[10]
Service de neuropédiatrie, APHP, Sorbonne Université, Hôpital Armand Trousseau, 75012, Paris, France.
[11]
Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[12]
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, 8916978477, Yazd, Iran.
[13]
The Dubowitz Neuromuscular Centre, University College London, Great Ormond Street, Institute of Child Health and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, London, UK.;MRC UCL International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD), London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, UK.
[14]
UF de Génétique Clinique, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, AP-HP. Sorbonne Université, Hôpital Armand Trousseau, 75012, Paris, France.
[15]
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.;Institute for Auditory Neuroscience and Inner Ear Lab, University Medical Center Göttingen, Göttingen, Germany.
[16]
DOI
10.1002/acn3.51633
PMID
35869884
发布时间
2022-10-05
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