Spinocerebellar Ataxia Type 7 (SCA7): First Report of a Systematic Neuropathological Study of the Brain of a Patient with a Very Short Expanded CAG‐Repeat

Spinocerebellar ataxia type 7 (ScA7) represents a very rare and severe autosomal dominantly inherited cerebellar ataxia (AdCA). It belongs to the group of CAG‐repeat or polyglutamine diseases with its underlying molecular genetical defect on chromosome 3p12‐p21.1. Here, we performed a systematic stu...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Brain Pathol
Egile Nagusiak: Rüb, U, Brunt, ER, Gierga, K, Seidel, K, Schultz, C, Schöls, L, Auburger, G, Heinsen, H, Ippel, PF, Glimmerveen, WF, Wittebol‐Post, D, Arai, K, Deller, T, de Vos, RAI
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Blackwell Publishing Ltd 2006
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8095872/
https://ncbi.nlm.nih.gov/pubmed/16389941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2005.tb00113.x
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