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Article

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2013

Appel-Cresswell Silke, Vilarino-Guell Carles, Encarnacion Mary, Sherman Holly, Yu Irene, Shah Brinda, Weir David, Thompson Christina, Szu-Tu Chelsea, Trinh Joanne, Aasly Jan O, Rajput Alex, Rajput Ali H, Jon Stoessl A, Farrer Matthew J

Abstract excerpt

BACKGROUND: Alpha-synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha-synuclein, as well as genomic multiplications have been identified as causes for autosomal-dominantly inherited Parkinsonism. METHODS: Here, we...

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Identifiers

PMID: 23457019
DOI: 10.1002/mds.25421

Genes

SNCA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23457019-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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