Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

被引：9
|
作者：
Van Daele, Sien Hilde [1 ,2 ,3 ,4 ]
Vermeer, Sascha [5 ]
Van Eesbeeck, Amelie [5 ]
Lannoo, Laura [1 ]
Race, Valerie [5 ]
van Damme, Philip [1 ,2 ,3 ,4 ]
Claeys, Kristl [1 ,2 ,3 ]
Vandenberghe, Wim [1 ,2 ,3 ]
机构：
[1] Univ Hosp Leuven, Dept Neurol, B-3000 Leuven, Belgium
[2] Katholieke Univ Leuven, Dept Neurosci, Leuven, Flanders, Belgium
[3] Katholieke Univ Leuven, Leuven Brain Inst, Leuven, Flanders, Belgium
[4] VIB, Ctr Brain & Dis Res, Leuven, Flanders, Belgium
[5] Univ Hosp Leuven, Ctr Human Genet, Leuven, Flanders, Belgium
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2020年 / 91卷 / 11期
关键词：
cerebellar ataxia; neuropathy; cerebellar degeneration; genetics;
D O I：
10.1136/jnnp-2020-323998
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1233 / 1234
页数：2
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