Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

Autosomal-dominant spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. In this study, we performed genetic analysis of a unique form of SCA (SCA36) that is accompanied by motor neuron involvement. Genome-wide linkage analysis and subsequent fine mapping for three...

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Autores principales: Kobayashi, Hatasu, Abe, Koji, Matsuura, Tohru, Ikeda, Yoshio, Hitomi, Toshiaki, Akechi, Yuji, Habu, Toshiyuki, Liu, Wanyang, Okuda, Hiroko, Koizumi, Akio
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2011
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135815/
https://ncbi.nlm.nih.gov/pubmed/21683323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.015
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