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...

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שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Front Cell Neurosci
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2018
נושאים:
Neuroscience
גישה מקוונת: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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