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RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

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第一作者: Kishore R,Kumar
第一单位: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
作者单位: Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia. [1] Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.;Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy. [2] Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia. [3] Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK. [4] Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia. [5] Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia. [6] Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia.;School of Medicine, University of New South Wales, Sydney, Australia. [7] Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, 2145, Australia. [8] School of Medicine, University of New South Wales, Sydney, Australia.;St Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia.;Discipline of Genetic Medicine, University of Sydney, Sydney, Australia. [9] St Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia. [10] Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia. [11] Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Vascular Immunology Unit Department of Pathology, The University of Sydney, Sydney, NSW Australia.;Central West Neurology and Neurosurgery, Orange, NSW Australia. [12] Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Royal North Shore Hospital, Pacific Hwy, St Leonards, NSW 2065, Australia. [13] Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia. [14] Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia.;Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.;Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia. [15]
DOI 10.1093/brain/awaa244
PMID 32949124
发布时间 2021-09-20
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