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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Detalles Bibliográficos
Autores principales: Coarelli, Giulia, Brice, Alexis, Durr, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234732/
https://www.ncbi.nlm.nih.gov/pubmed/30473770
http://dx.doi.org/10.12688/f1000research.15788.1

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