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Article

PINK1 mutations are associated with sporadic early-onset parkinsonism.

Annals of neurology - 1 Sept 2004

Valente Enza Maria, Salvi Sergio, Ialongo Tamara, Marongiu Roberta, Elia Antonio Emanuele, Caputo Viviana, Romito Luigi, Albanese Alberto, Dallapiccola Bruno, Bentivoglio Anna Rita

Abstract excerpt

We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients...

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Source

Identifiers

PMID: 15349860
DOI: 10.1002/ana.20256

Genes

PINK1

Provenance

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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