首页> Journal of neuromuscular diseases> Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

导出 LinkOut

翻译打印收藏纠错

第一作者： Natalie,Forrester

第一单位： Bristol Genetics Laboratory, North Bristol Trust, Bristol, UK.

作者： Natalie,Forrester ^[1] ; Rohini,Rattihalli ^[2] ; Rita,Horvath ^[3] ; Lorenzo,Maggi ^[4] ; Adnan,Manzur ^[5] ; Geraint,Fuller ^[6] ; Nicholas,Gutowski ^[7] ; Julia,Rankin ^[7] ; David,Dick ^[8] ; Christopher,Buxton ^[1] ; Mark,Greenslade ^[1] ; Anirban,Majumdar ^[9]

作者单位： Bristol Genetics Laboratory, North Bristol Trust, Bristol, UK. ^[1] John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. ^[2] Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. ^[3] Istituto Neurologico Carlo Besta, Milan, Italy. ^[4] Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. ^[5] Gloucester Royal Infirmary, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK. ^[6] Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. ^[7] Norfolk and Norwich University Hospital, Norwich, UK. ^[8] University Hospitals Bristol NHS Foundation Trust, Bristol, UK. ^[9]

关键词 Aminoacyl-tRNA synthetases Charcot-Marie-Tooth disease Glycyl-tRNA synthetase Next Generation Sequencing distal hereditary motor neuropathy peripheral neuropathies