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Article

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Human molecular genetics - 1 Dec 2015

Kun-Rodrigues Celia, Ganos Christos, Guerreiro Rita, Schneider Susanne A, Schulte Claudia, Lesage Suzanne, Darwent Lee, Holmans Peter, Singleton Andrew, Bhatia Kailash, Bras Jose

Abstract excerpt

Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations...

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Identifiers

PMID: 26362251
DOI: 10.1093/hmg/ddv376
PMCID: PMC4634375

Genes

PTEN
VAPB

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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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