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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group
2014
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| 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 |