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Article

Genetic analysis of synphilin-1 in familial Parkinson's disease.

Neurobiology of disease - 1 Apr 2001

Farrer M, Destée A, Levecque C, Singleton A, Engelender S, Becquet E, Mouroux V, Richard F, Defebvre L, Crook R, Hernandez D, Ross C A, Hardy J, Amouyel P, Chartier-Harlin M C

Abstract excerpt

alpha-Synuclein is present in Lewy bodies of patients with both sporadic and familial Parkinson's disease. However, pathogenic mutations Ala30Pro and Ala53Thr in alpha-synuclein are rare causes of disease. Synphilin-1 has been demonstrated to associate with alpha-synuclein and promote the formation of cytosolic inclusions in vitro. Two-point genetic linkage analysis of a dinucleotide repeat within the synphilin-1...

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Identifiers

PMID: 11300726
DOI: 10.1006/nbdi.2000.0326

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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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