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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Dades bibliogràfiques
Publicat a:Brain Pathol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2006
Matèries:
Research Article
Accés en línia: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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