Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.-论文-万方医学网

第一作者： Alexander M,Rossor

第一单位： MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address: a.rossor@ucl.ac.uk.

作者： Alexander M,Rossor ^[1] ; Jasper M,Morrow ^[2] ; James M,Polke ^[3] ; Sinead M,Murphy ^[4] ; Henry,Houlden ^[2] ; INC-RDCRC ^[2] ; Matilde,Laura ^[2] ; Hadi,Manji ^[5] ; Julian,Blake ^[2] ; Mary M,Reilly

作者单位： MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address: a.rossor@ucl.ac.uk. ^[1] MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK. ^[2] Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK. ^[3] Department of Neurology, Adelaide & Meath Hospitals Incorporating the National Children's Hospital, Tallaght, Dublin, Ireland; Academic Unit of Neurology, Trinity College Dublin, Ireland. ^[4] MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, UK. ^[5]

医学主题词成年人(Adult);发病年龄(Age of Onset);老年人(Aged);夏科-马里-图斯病(Charcot-Marie-Tooth Disease);疾病恶化(Disease Progression);女(雌)性(Female);随访研究(Follow-Up Studies);HSP27热休克蛋白质类(HSP27 Heat-Shock Proteins);热休克蛋白质类(Heat-Shock Proteins);遗传性感觉和运动神经病(Hereditary Sensory and Motor Neuropathy);人类(Humans);下肢(Lower Extremity);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);分子伴侣(Molecular Chaperones);肌, 骨骼(Muscle, Skeletal);系谱(Pedigree);表型(Phenotype);试点项目(Pilot Projects)

DOI 10.1016/j.nmd.2016.10.001

PMID 27816334

发布时间 2025-05-30

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Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Neuromuscular disorders

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Neuromuscular disorders

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Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Neuromuscular disorders

相似文献

同项目论文

Neuromuscular disorders

相关期刊

检索历史清除