Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia...

詳細記述

保存先:
書誌詳細
出版年:Front Cell Neurosci
主要な著者: Nethisinghe, Suran, Lim, Wei N., Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P., Bhatia, Kailash P., Wood, Nicholas W., Hardy, John, Polke, James M., Veneziano, Liana, Brusco, Alfredo, Davis, Mary B., Giunti, Paola
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2018
主題:
Neuroscience
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6265347/
https://ncbi.nlm.nih.gov/pubmed/30532692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fncel.2018.00429
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