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Spinocerebellar ataxia type 36 in the Han Chinese

13 Apr 2016

Abstract excerpt

OBJECTIVE: To ascertain the genetic and clinical characteristics of the GGCCTG hexanucleotide repeat expansion in the nucleolar protein 56 gene (NOP56) in patients with spinocerebellar ataxia (SCA), sporadic ataxia, or amyotrophic lateral sclerosis (ALS) in Taiwan. METHODS: We conducted clinical and molecular genetic studies of 109 probands with molecularly unassigned SCA from 512 SCA pedigrees, 323 healthy...

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PMID: 27123487
DOI: 10.1212/nxg.0000000000000068

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