换一批
第一作者：
Alistair T,Pagnamenta
第一单位：
NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
作者：
Alistair T,Pagnamenta [1]
;
Rauan,Kaiyrzhanov [2]
;
Yaqun,Zou [3]
;
Sahar I,Da'as [4]
;
Reza,Maroofian [2]
;
Sandra,Donkervoort [3]
;
Natalia,Dominik [2]
;
Marlen,Lauffer [5]
;
Matteo P,Ferla [1]
;
Andrea,Orioli [6]
;
Adam,Giess [6]
;
Arianna,Tucci [6]
;
Christian,Beetz [7]
;
Maryam,Sedghi [8]
;
Behnaz,Ansari [9]
;
Rita,Barresi [10]
;
Keivan,Basiri [9]
;
Andrea,Cortese [2]
;
Greg,Elgar [6]
;
Miguel A,Fernandez-Garcia [11]
;
Janice,Yip [2]
;
A Reghan,Foley [3]
;
Nicholas,Gutowski [12]
;
Heinz,Jungbluth [13]
;
Saskia,Lassche [14]
;
Tim,Lavin [15]
;
Carlo,Marcelis [16]
;
Peter,Marks [17]
;
Chiara,Marini-Bettolo [10]
;
Livija,Medne [18]
;
Ali-Reza,Moslemi [19]
;
Anna,Sarkozy [20]
;
Mary M,Reilly [2]
;
Francesco,Muntoni [20]
;
Francisca,Millan [21]
;
Colleen C,Muraresku [22]
;
Anna C,Need [6]
;
Andrea H,Nemeth [23]
;
Sarah B,Neuhaus [3]
;
Fiona,Norwood [24]
;
Marie,O'Donnell [17]
;
Mary,O'Driscoll [17]
;
Julia,Rankin [25]
;
Sabrina W,Yum [26]
;
Zarazuela,Zolkipli-Cunningham [27]
;
Isabell,Brusius [5]
;
Gilbert,Wunderlich [28]
;
Genomics England Research Consortium [5]
;
Mert,Karakaya [5]
;
Brunhilde,Wirth [29]
;
Khalid A,Fakhro [30]
;
Homa,Tajsharghi [3]
;
Carsten G,Bönnemann [1]
;
Jenny C,Taylor [2]
;
Henry,Houlden
作者单位：
NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
[1]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
[2]
Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA.
[3]
Department of Human Genetics, Sidra Medicine, Doha, Qatar.
[4]
Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
[5]
William Harvey Research Institute, Queen Mary University of London, London, UK.;Genomics England, London, UK.
[6]
Centogene AG, Rostock, Germany.
[7]
Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
[8]
Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
[9]
The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.;Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK.
[10]
Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.
[11]
Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK.
[12]
Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.;Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, King's College London, London, UK.;Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
[13]
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
[14]
Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
[15]
Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
[16]
West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.
[17]
Divisions of Neurology and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[18]
Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden.
[19]
The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK.
[20]
GeneDx, Gaithersburg, 20877 MD, USA.
[21]
Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.
[22]
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.;Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK.
[23]
Department of Neurology, King's College Hospital, London, UK.
[24]
Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK.
[25]
Division of Pediatric Neurology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
[26]
Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.;Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA.
[27]
Department of Neurology, Center for Rare Diseases Cologne, University Hospital Cologne, Cologne, Germany.
[28]
Department of Human Genetics, Sidra Medicine, Doha, Qatar.;College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.;Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.
[29]
School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Sweden.
[30]
医学主题词
成年人(Adult);老年人(Aged);动物(Animals);行为, 动物(Behavior, Animal);儿童(Child);细胞外基质蛋白质类(Extracellular Matrix Proteins);女(雌)性(Female);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);人类(Humans);男(雄)性(Male);中年人(Middle Aged);肌, 骨骼(Muscle, Skeletal);突变(Mutation);系谱(Pedigree);青年人(Young Adult);斑马鱼(Zebrafish)
DOI
10.1093/brain/awaa420
PMID
33559681
发布时间
2025-05-30
- 浏览0
Brain
Brain
584-600页
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