Associated Papers
Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.
Yin EP et al.
Journal of Parkinson's Disease, 2025
Mapping of a N-terminal α-helix domain required for human PINK1 stabilization, Serine228 autophosphorylation and activation in cells.
Kakade P et al.
Open Biology, 2022
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.
Wang P et al.
Neuroscience Letters, 2018
A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.
Ben El Haj R et al.
Biomed Research International, 2016
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Marongiu R et al.
Human Mutation, 2008
Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.
Zadikoff C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
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