Article
Autosomal recessive spinocerebellar ataxias in Japan.
Rinsho shinkeigaku = Clinical neurology - 22 Jun 2016
Tanaka Fumiaki, Doi Hiroshi, Kunii Misako
Abstract excerpt
Recent new sequencing techniques allow the identification of novel responsible genes for autosomal recessive spinocerebellar ataxias (ARCAs). However, the same phenotypes are sometimes attributed to the different responsible genes in ARCAs. On the contrary, the same responsible genes may cause heterogeneous phenotypes with respect to the age at onset, symptoms, and the severity of the disease progression. In...
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