An Isoform of Ataxin‐3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

Autosomal dominant spinocerebellar ataxias (SCA) form a group of clinically and genetically heterogeneous neurodegenerative disorders. The defect responsible for SCA3/Machado‐Joseph disease (MJD) has been identified as an unstable and expanded (CAG)(n) trinucleotide repeat in the coding region of a...

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Vydáno v:Brain Pathol
Hlavní autoři: Schmidt, Thorsten, Landwehrmeyer, G. Bernhard, Schmitt, Ina, Trottier, Yvon, Auburger, Georg, Laccone, Franco, Klockgether, Thomas, Völpel, Michael, Epplen, Jörg T., Schöls, Ludger, Riess, Olaf
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Publishing Ltd 2006
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098309/
https://ncbi.nlm.nih.gov/pubmed/9804376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.1998.tb00193.x
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