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Article

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.

Journal of the neurological sciences - 15 Feb 2020

Almaguer-Mederos Luis E, Jorge-Sainz Yasnay, Almaguer-Gotay Dennis, Aguilera-Rodríguez Raúl, Rodríguez-Labrada Roberto, Velázquez-Pérez Luis, González-Zaldívar Yanetza, Cuello-Almarales Dany, Vázquez-Mojena Yaimé, Canales-Ochoa Nalia, Aguiar-Santiago Jorge, Auburger Georg, MacLeod Patrick

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder due to a CAG-repeat expansion. This work is intended to identify modifiers of the clinical phenotype in SCA2, following up on recent genome-wide association analyses that demonstrated the prominent role of DNA-damage repair and methylation for the severity and progression of polyglutamine diseases. In particular, we assessed the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 31812845
DOI: 10.1016/j.jns.2019.116586

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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