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Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view

Abstract Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. To date, 47 SCA subtypes have been identified, and the number of genes implicated in SCAs is continually increasing. Polyglutamine (polyQ) expansion diseases ( ATXN1/SCA1, ATXN2/SCA2, ATX...

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Detalhes bibliográficos
Publicado no:F1000Res
Main Authors: Coarelli, Giulia, Brice, Alexis, Durr, Alexandra
Formato: Artigo
Idioma:Inglês
Publicado em: F1000 Research Limited 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6234732/
https://ncbi.nlm.nih.gov/pubmed/30473770
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.15788.1
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