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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Brain Pathol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Blackwell Publishing Ltd 2006
Aiheet:
Research Article
Linkit: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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