Associated Papers
Methodological validation of Miro1 retention as a candidate Parkinson's disease biomarker.
Drwesh L et al.
Npj Parkinson's Disease, 2025
Computational association in parkinson's disease SNPs with brain structural and functional alterations.
Subramaniyan S et al.
Neurogenetics, 2025
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 2025
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ et al.
Acta Neuropathologica, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Association of PARK-2 Non-synonyms Polymorphisms and Their In Silico Validation Among North Indian Colorectal Cancer Patients.
Bhat ZI et al.
Journal of Gastrointestinal Cancer, 2022
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Parkin, an E3 Ubiquitin Ligase, Plays an Essential Role in Mitochondrial Quality Control in Parkinson's Disease.
Wang XL et al.
Cellular and Molecular Neurobiology, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe.
Milanowski ŁM et al.
Parkinsonism & Related Disorders, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas.
Brewer K et al.
Endocrine Connections, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Identification of mutations in the PARK2 gene in Serbian patients with Parkinson's disease.
Jankovic MZ et al.
Journal of the Neurological Sciences, 2018
New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.
Bartoníková T et al.
Medicine, 2018
Expansion of the classification of FTLD-TDP: distinct pathology associated with rapidly progressive frontotemporal degeneration.
Lee EB et al.
Acta Neuropathologica, 2017
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Puschmann A et al.
Brain : a Journal of Neurology, 2017
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K et al.
Nature Communications, 2016
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Huttenlocher J et al.
Human Molecular Genetics, 2015
Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2015
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.
Bozi M et al.
European Journal of Neurology, 2014
Low prevalence of most frequent pathogenic variants of six PARK genes in sporadic Parkinson's disease.
García S et al.
Folia Neuropathologica, 2014
Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's disease.
Fiala O et al.
Plos One, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
de Mena L et al.
Journal of Molecular Neuroscience : Mn, 2013
Association of five SNPs at the PARK16 locus as a susceptibility locus with Parkinson's disease for forensic application.
Cui HG et al.
Fa Yi Xue Za Zhi, 2013
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
Moura KC et al.
Disease Markers, 2013
Meta-analysis of the influence of Parkin p.Asp394Asn variant on the susceptibility of Parkinson's disease.
Zhang Y et al.
Neuroscience Letters, 2012
PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.
Gaweda-Walerych K et al.
Parkinsonism & Related Disorders, 2012
Mutations in the parkin gene are a minor cause of Parkinson's disease in the South African population.
Haylett WL et al.
Parkinsonism & Related Disorders, 2012
PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
Ghazavi F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
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
Low frequency of the PARK2 gene mutations in Polish patients with the early-onset form of Parkinson disease.
Koziorowski D et al.
Parkinsonism & Related Disorders, 2010
PARKIN-coding polymorphisms are not associated with Parkinson's disease in a population from northeastern Mexico.
Martínez HR et al.
Neuroscience Letters, 2010
Parkin mutations and phenotypic features in Czech patients with early-onset Parkinson's disease.
Fiala O et al.
Neuro Endocrinology Letters, 2010
Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.
Pankratz N et al.
Neurology, 2009
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
Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.
Bardien S et al.
Parkinsonism & Related Disorders, 2009
Investigation of genes related to familial forms of Parkinson's disease--with focus on the Parkin gene.
Håkansson A et al.
Parkinsonism & Related Disorders, 2008
Parkin polymorphisms in progressive supranuclear palsy.
Ros R et al.
Journal of the Neurological Sciences, 2008
Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.
Lesage S et al.
Journal of Medical Genetics, 2008
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Clark LN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007