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Article

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

European journal of human genetics : EJHG - 1 Sept 2005

Klein Christine, Djarmati Ana, Hedrich Katja, Schäfer Nora, Scaglione Cesa, Marchese Roberta, Kock Norman, Schüle Birgitt, Hiller Anja, Lohnau Thora, Winkler Susen, Wiegers Karin, Hering Robert, Bauer Peter, Riess Olaf, Abbruzzese Giovanni, Martinelli Paolo, Pramstaller Peter P

Abstract excerpt

Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of onset: 43.2+/-5.4 years, 62 sporadic, three familial), selected by age at ons...

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Source

Identifiers

PMID: 15970950
DOI: 10.1038/sj.ejhg.5201455

Genes

PINK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15970950-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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