Associated Papers
VPS13C heterozygous loss of function as a modifier for suboptimal response to levodopa in Parkinson's disease.
Malfer L et al.
Parkinsonism & Related Disorders, 2026
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
Cook L et al.
Brain : a Journal of Neurology, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease.
Papagiannakis N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Intracellular delivery of Parkin-RING0-based fragments corrects Parkin-induced mitochondrial dysfunction through interaction with SLP-2.
Zanon A et al.
Journal of Translational Medicine, 2024
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2023
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
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
Deep brain stimulation for monogenic Parkinson's disease: a systematic review.
Kuusimäki T et al.
Journal of Neurology, 2020
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
Genetic background and outcome of Deep Brain Stimulation in Parkinson's disease.
Rizzone MG et al.
Parkinsonism & Related Disorders, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Association of Subthalamic Deep Brain Stimulation With Motor, Functional, and Pharmacologic Outcomes in Patients With Monogenic Parkinson Disease: A Systematic Review and Meta-analysis.
Artusi CA et al.
Jama Network Open, 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
Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism.
Zimmermann M et al.
Parkinsonism & Related Disorders, 2018
Siblings with unusual presentation of early onset Parkinson's disease with dual heterozygous PARK2 and PARK 9 mutation.
Chatterjee K et al.
Parkinsonism & Related Disorders, 2018
A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling.
Malty RH et al.
Cell Systems, 2017
The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.
Gautier CA et al.
Human Molecular Genetics, 2016
Genomic instability in the PARK2 locus is associated with Parkinson's disease.
Ambroziak W et al.
Journal of Applied Genetics, 2015
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
Zanellati MC et al.
Frontiers in Genetics, 2015
Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2013
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Angeli A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
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