RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome

被引：25

作者：

Kumar, Kishore R. ^{[1
,2
,3
,4
]}

Cortese, Andrea ^{[5
,6
,7
]}

Tomlinson, Susan E. ^{[8
]}

Efthymiou, Stephanie ^{[5
,6
]}

Ellis, Melina ^{[9
]}

Zhu, Danqing ^{[1
]}

Stoll, Marion ^{[1
]}

Dominik, Natalia ^{[5
,6
]}

Tisch, Stephen ^{[8
,10
]}

Tchan, Michel ^{[3
,11
]}

Wu, Kathy H. C. ^{[10
,12
,13
]}

Devery, Sophie ^{[12
]}

Spring, Penelope J. ^{[2
]}

Hawke, Simon ^{[3
,14
,15
]}

Cremer, Phillip ^{[3
,16
]}

Ng, Karl ^{[3
,16
]}

Reilly, Mary M. ^{[5
,6
]}

Nicholson, Garth A. ^{[1
,2
,3
,9
]}

Houlden, Henry ^{[5
,6
]}

Kennerson, Marina ^{[1
,3
,9
]}

机构：

[1] Concord Repatriat Gen Hosp, Mol Med Lab, Sydney, NSW, Australia

[2] Concord Repatriat Gen Hosp, Dept Neurol, Sydney, NSW, Australia

[3] Univ Sydney, Sydney Med Sch, Fac Med & Hlth, Sydney, NSW, Australia

[4] Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW, Australia

[5] UCL Queen Sq Inst Neurol, Dept Neuromuscular Dis, London, England

[6] Natl Hosp Neurol & Neurosurg, London, England

[7] Univ Pavia, Dept Brain & Behav Sci, Pavia, Italy

[8] St Vincents Hosp, Dept Neurol, Sydney, NSW, Australia

[9] ANZAC Res Inst, Northcott Neurosci Lab, Gate 3 Hosp Rd, Concord, NSW 2139, Australia

[10] Univ New South Wales, Sch Med, Sydney, NSW, Australia

[11] Westmead Hosp, Dept Med Genet, Westmead, NSW 2145, Australia

[12] St Vincents Hosp, St Vincents Clin Genom, Sydney, NSW, Australia

[13] Univ Sydney, Discipline Genet Med, Sydney, NSW, Australia

[14] Univ Sydney, Dept Pathol, Vasc Immunol Unit, Sydney, NSW, Australia

[15] Cent West Neurol & Neurosurg, Orange, NSW, Australia

[16] Royal North Shore Hosp, Pacific Hwy, St Leonards, NSW 2065, Australia

来源：

BRAIN | 2020年 / 143卷

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

VESTIBULAR AREFLEXIA SYNDROME; GASTROESOPHAGEAL-REFLUX; CEREBELLAR-ATAXIA; REPEAT;

D O I：

10.1093/brain/awaa244

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：E82 / +

页数：5

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