A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

被引:0
|
作者
David Mengel
Andreas Traschütz
Selina Reich
Alejandra Leyva-Gutiérrez
Friedemann Bender
Stefan Hauser
Tobias B. Haack
Matthis Synofzik
机构
[1] University of Tübingen,Department of Neurodegenerative Diseases, Center for Neurology, Hertie Institute for Clinical Brain Research
[2] German Centre for Neurodegenerative Diseases (DZNE),Institute of Medical Genetics and Applied Genomics
[3] University of Tübingen,Centre for Rare Diseases
[4] University of Tübingen,undefined
来源
Journal of Neurology | 2021年 / 268卷
关键词
STUB1; CHIP; Ataxia; Dominant; Early-onset ataxia; SCA48;
D O I
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中图分类号
学科分类号
摘要
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收藏
页码:3845 / 3851
页数:6
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