Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

Cerebellum (London, England)(2015)

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关键词
Autosomal Recessive Inheritance, Compound Heterozygous Mutation, Neuronal Intranuclear Inclusion, Ocular Pursuit, Neurogenic Dysphagia
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