Emerging evidence of coding mutations in the ubiquitin–proteasome system associated with cerebellar ataxias

Cerebellar ataxia (CA) is a disorder associated with impairments in balance, coordination, and gait caused by degeneration of the cerebellum. The mutations associated with CA affect functionally diverse genes; furthermore, the underlying genetic basis of a given CA is unknown in many patients. Exome...

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Detalles Bibliográficos
Autores principales: Ronnebaum, Sarah M, Patterson, Cam, Schisler, Jonathan C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785523/
https://www.ncbi.nlm.nih.gov/pubmed/27081508
http://dx.doi.org/10.1038/hgv.2014.18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785523/
https://www.ncbi.nlm.nih.gov/pubmed/27081508
http://dx.doi.org/10.1038/hgv.2014.18

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