先证者
脊髓小脑共济失调
医学
心理学
共济失调
神经科学
遗传学
突变
生物
基因
作者
Liu Lili,Juanjuan Chen,Guogao Zhang,Zhijian Lin,Di Chen,Jun Hu
出处
期刊：The Cerebellum
[Springer Science+Business Media]
日期：2024-02-12
卷期号：23 (4): 1705-1711
被引量：1
标识
DOI：10.1007/s12311-024-01664-3
摘要
Spinocerebellar ataxias (SCAs) are inherited neurodegenerative diseases characterized by loss of balance, coordination, and slurred speech. Recently, a digenic mode of inheritance of TBP/STUB1 contributing to SCA was demonstrated. The clinical manifestations of SCA
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