Associated Papers
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
Naturally occurring hyperactive variants of human parkin.
Huq TS et al.
Communications Biology, 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
Lysosomal genes contribute to Parkinson's disease near agriculture with high intensity pesticide use.
Ngo KJ et al.
Npj Parkinson's Disease, 2024
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
JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.
Bodaar K et al.
Leukemia, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Lubbe SJ et al.
Human Molecular Genetics, 2021
Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease.
Torrealba-Acosta G et al.
Frontiers in Neurology, 2021
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Williams EA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.
Pouliot GP et al.
Plos One, 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.
Burns MA et al.
Leukemia, 2018
Impact of altered phosphorylation on loss of function of juvenile Parkinsonism-associated genetic variants of the E3 ligase parkin.
Aguirre JD et al.
The Journal of Biological Chemistry, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.
Ben-Shachar S et al.
Journal of Molecular Neuroscience : Mn, 2017
Structural and Functional Impact of Parkinson Disease-Associated Mutations in the E3 Ubiquitin Ligase Parkin.
Fiesel FC et al.
Human Mutation, 2015
Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's Disease.
Oczkowska A et al.
Current Genomics, 2015
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
Meeus B et al.
Neurobiology of Aging, 2012
Impact of autosomal recessive juvenile Parkinson's disease mutations on the structure and interactions of the parkin ubiquitin-like domain.
Safadi SS et al.
Biochemistry, 2011
PARK2 deletions occur frequently in sporadic colorectal cancer and accelerate adenoma development in Apc mutant mice.
Poulogiannis G et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1.
Geisler S et al.
Nature Cell Biology, 2010
Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair.
Rothfuss O et al.
Human Molecular Genetics, 2009
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Nuytemans K et al.
Human Mutation, 2009
Parkin-associated Parkinson's disease.
von Coelln R et al.
Cell and Tissue Research, 2004
Parkin genetics: one model for Parkinson's disease.
Mata IF et al.
Human Molecular Genetics, 2004