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Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing

BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord...

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Detalles Bibliográficos
Autores principales:	Lu, Cong, Zheng, Yi-Cen, Dong, Yi, Li, Hong-Fu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029030/ https://www.ncbi.nlm.nih.gov/pubmed/27644330 http://dx.doi.org/10.1186/s12883-016-0696-y

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