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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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Détails bibliographiques
Publié dans:BMC Neurol
Auteurs principaux: Lu, Cong, Zheng, Yi-Cen, Dong, Yi, Li, Hong-Fu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5029030/
https://ncbi.nlm.nih.gov/pubmed/27644330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0696-y
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