Associated Papers
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
40954161 (PubMed )
Supplement: 41531_2025_1115_MOESM2_ESM.xlsx › Depolarization_quantification
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
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_
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
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
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 PARKIN, PINK1, DJ1, and SNCA genes in Turkish early-onset Parkinson's patients and genotype-phenotype correlations.
Erer S et al.
Clinical Neurology and Neurosurgery, 2016
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K et al.
Nature Communications, 2016
27231142 (PubMed )
Supplement: ncomms11601-s1.pdf
The interplay between environmental and genetic factors in Parkinson's disease susceptibility: the evidence for pesticides.
Dardiotis E et al.
Toxicology, 2013
Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism.
Scornaienchi V et al.
Parkinsonism & Related Disorders, 2012
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
Lill CM et al.
Plos Genetics, 2012
22438815 (PubMed )
Supplement: pgen.1002548.s005.xls › Supplementary_Table_1
Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease.
Keyser RJ et al.
Biochemical and Biophysical Research Communications, 2010
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
Evaluation of PINK1 variants in Indian Parkinson's disease patients.
Biswas A et al.
Parkinsonism & Related Disorders, 2010
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
PINK1 mutations are associated with sporadic early-onset parkinsonism.
Valente EM et al.
Annals of Neurology, 2004
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