Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

Autosomal-recessive cerebellar ataxias (ARCA) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine...

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Publicado en:Cerebellum
Autores principales: Wiethoff, Sarah, Bettencourt, Conceição, Paudel, Reema, Madon, Prochi, Liu, Yo-Tsen, Hersheson, Joshua, Wadia, Noshir, Desai, Joy, Houlden, Henry
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer US 2016
Materias:
Short Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5243903/
https://ncbi.nlm.nih.gov/pubmed/26995604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-016-0769-x
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