Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Generation of induced pluripotent stem cells (NIMHi018-A) from a Parkinson's disease patient harbouring a heterozygous missense mutation for PINK1 variant c.1208G > A, p.Trp403Ter.
Banerjee R et al.
Stem Cell Research, 2025
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
Genetic variants of ZNF746 and the level of plasma Parkin, PINK1, and ZNF746 proteins in patients with Parkinson's disease.
Dorszewska J et al.
Ibro Neuroscience Reports, 2025
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
Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.
Franz TM et al.
Neurologia I Neurochirurgia Polska, 2025
Correction: PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.
Mihara Y et al.
Bmc Gastroenterology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
PTEN-induced kinase 1 gene single-nucleotide variants as biomarkers in adjuvant chemotherapy for colorectal cancer: a retrospective study.
Mihara Y et al.
Bmc Gastroenterology, 2023
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 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
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's disease.
Ton ND et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic characterization of Parkinson's disease patients in Ecuador and Colombia.
Tipton PW et al.
Parkinsonism & Related Disorders, 2020
Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.
Oluwole OG et al.
Bmc Medical Genetics, 2020
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.
Illés A et al.
Frontiers in Genetics, 2019
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.
Van Giau V et al.
Neuropsychiatric Disease and Treatment, 2018
Common variants in the PARL and PINK1 genes increase the risk to leprosy in Han Chinese from South China.
Wang D et al.
Scientific Reports, 2016
Novel P-TEN-induced putative kinase 1 (PINK1) variant in Indian Parkinson's disease patient.
Halder T et al.
Neuroscience Letters, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
PINK1 rendered temperature sensitive by disease-associated and engineered mutations.
Narendra DP et al.
Human Molecular Genetics, 2013
The interplay between environmental and genetic factors in Parkinson's disease susceptibility: the evidence for pesticides.
Dardiotis E et al.
Toxicology, 2013
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
Moura KC et al.
Disease Markers, 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
Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1.
Cardona F et al.
Human Mutation, 2011
Lrrk2 S1647T and BDNF V66M interact with environmental factors to increase risk of Parkinson's disease.
Lin CH et al.
Parkinsonism & Related Disorders, 2011
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
Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China.
Zhang BR et al.
Neuroscience Letters, 2010
Evaluation of PINK1 variants in Indian Parkinson's disease patients.
Biswas A et al.
Parkinsonism & Related Disorders, 2010
PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease.
Godeiro C et al.
Neuroscience Letters, 2010
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.
Brooks J et al.
Journal of Medical Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
Myhre R et al.
Bmc Neurology, 2008
Genomic variants at the PINK1 locus are associated with transcript abundance and plasma nonesterified fatty acid concentrations in European whites.
Franks PW et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008