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Article

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.

PloS one - 1 Jan 2015

McFarland Karen N, Liu Jilin, Landrian Ivette, Godiska Ronald, Shanker Savita, Yu Fahong, Farmerie William G, Ashizawa Tetsuo

Abstract excerpt

A large, non-coding ATTCT repeat expansion causes the neurodegenerative disorder, spinocerebellar ataxia type 10 (SCA10). In a subset of SCA10 patients, interruption motifs are present at the 5' end of the expansion and strongly correlate with epileptic seizures. Thus, interruption motifs are a predictor of the epileptic phenotype and are hypothesized to act as a phenotypic modifier in SCA10. Yet, the exact...

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Identifiers

PMID: 26295943
DOI: 10.1371/journal.pone.0135906
PMCID: PMC4546671

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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