تقرير
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
| العنوان: | RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome. |
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| المؤلفون: | Kumar KR; 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., Cortese A; 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., Tomlinson SE; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia., Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, Australia., Zhu D; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia., Stoll M; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW, Australia., Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Tisch S; Department of Neurology, St Vincent's Hospital, Darlinghurst, Sydney, Australia.; School of Medicine, University of New South Wales, Sydney, Australia., Tchan M; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.; Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, 2145, Australia., Wu KHC; 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., Devery S; St Vincent's Clinical Genomics, St Vincent's Hospital, Sydney, Australia., Spring PJ; Neurology Department, Concord Repatriation General Hospital, Sydney, NSW, Australia., Hawke S; 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., Cremer P; 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., Ng K; 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., Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Nicholson GA; 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., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Kennerson M; 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. |
| المصدر: | Brain : a journal of neurology [Brain] 2020 Oct 01; Vol. 143 (10), pp. e82. |
| نوع المنشور: | Letter; Research Support, Non-U.S. Gov't; Comment |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Oxford : Oxford University Press Original Publication: London. |
| مواضيع طبية MeSH: | Cerebellar Ataxia* , Hereditary Sensory and Autonomic Neuropathies* , Sjogren's Syndrome*/complications , Sjogren's Syndrome*/diagnosis , Sjogren's Syndrome*/genetics , Vestibular Neuronitis*, Cough ; Humans |
| التعليقات: | Comment on: Brain. 2020 Feb 1;143(2):480-490. (PMID: 32040566) |
| References: | Am J Hum Genet. 2019 Jul 3;105(1):151-165. (PMID: 31230722) Brain. 2020 Feb 1;143(2):480-490. (PMID: 32040566) Front Genet. 2019 Nov 22;10:1219. (PMID: 31824583) Brain. 2005 Dec;128(Pt 12):2797-810. (PMID: 16311270) Neurol Clin Pract. 2016 Feb;6(1):61-68. (PMID: 26918204) Am J Hum Genet. 2003 Sep;73(3):632-7. (PMID: 12870133) Nat Genet. 2019 Apr;51(4):649-658. (PMID: 30926972) |
| معلومات مُعتمدة: | United Kingdom WT_ Wellcome Trust; MR/T001712/1 United Kingdom MRC_ Medical Research Council |
| تواريخ الأحداث: | Date Created: 20200919 Date Completed: 20210212 Latest Revision: 20210920 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC7586083 |
| DOI: | 10.1093/brain/awaa244 |
| PMID: | 32949124 |
| قاعدة البيانات: | MEDLINE |
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