Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Cis or trans: a puzzle of Parkin activation mechanism.
Sherawat M et al.
Essays in Biochemistry, 2026
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.
Pilotto A et al.
International Journal of Molecular Sciences, 2025
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY et al.
European Journal of Neurology, 2024
Therapeutic potential of Parkin and its regulation in Parkinson's disease.
Safreena N et al.
Biochemical Pharmacology, 2024
Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.
Asimakidou E et al.
Movement Disorders Clinical Practice, 2024
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 2023
Parkin Maintains Robust Pacemaking in Human Induced Pluripotent Stem Cell-Derived A9 Dopaminergic Neurons.
Pu J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.
Aghamir SMK et al.
Genes, 2023
Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.
Kablan A et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
Systematic Functional Analysis of PINK1 and PRKN Coding Variants.
Broadway BJ et al.
Cells, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
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
Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.
Kamienieva I et al.
Translational Neurodegeneration, 2021
Community-based genetic study of Parkinson's disease in Estonia.
Muldmaa M et al.
Acta Neurologica Scandinavica, 2021
Identification & characterization of leucine-rich repeat kinase 2 & parkin RBR E3 ubiquitin protein ligase variants in patients with Parkinson's disease.
Halder T et al.
The Indian Journal of Medical Research, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Mutation Analysis of the Genes Associated with Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia.
Luukkainen L et al.
Journal of Alzheimer's Disease : Jad, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains.
Keogh MJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
Schormair B et al.
Clinical Genetics, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ et al.
Human Molecular Genetics, 2016
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
Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.
Benitez BA et al.
Molecular Neurodegeneration, 2016
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Huttenlocher J et al.
Human Molecular Genetics, 2015
Parkin maintains mitochondrial levels of the protective Parkinson's disease-related enzyme 17-β hydroxysteroid dehydrogenase type 10.
Bertolin G et al.
Cell Death and Differentiation, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.
Pihlstrøm L et al.
Annals of Human Genetics, 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
Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.
Moura KC et al.
Disease Markers, 2013
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
Parkinson-related genetics in patients treated with deep brain stimulation.
Johansen KK et al.
Acta Neurologica Scandinavica, 2011
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
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.
Marder KS et al.
Archives of Neurology, 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