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
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.
Gambardella S et al.
Parkinson's Disease, 2018
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.
Scornaienchi V et al.
Parkinsonism & Related Disorders, 2012
Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism.
Zhang X et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2011
Evaluation of PINK1 variants in Indian Parkinson's disease patients.
Biswas A et al.
Parkinsonism & Related Disorders, 2010
Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.
Grünewald A et al.
Neurogenetics, 2007
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Bonifati V et al.
Neurology, 2005
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Valente EM et al.
Annals of Neurology, 2004
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