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
39973502 (PubMed )
Supplement: sj-xlsx-2-pkn-10.1177_1877718x241304814.xlsx › Total_PINK1_cases
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.
Vacchiano V et al.
Genes, 2022
Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.
Ma KY et al.
Npj Parkinson's Disease, 2021
PINK1 p.K520RfsX3 mutation identified in a Chinese family with early-onset Parkinson's disease.
Wang P et al.
Neuroscience Letters, 2018
Structure of PINK1 in complex with its substrate ubiquitin.
Schubert AF et al.
Nature, 2017
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).
Sim CH et al.
Human Mutation, 2012
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
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