Associated Papers
Large-scale copy number variant analysis in genes linked to Parkinson´s disease.
Landoulsi Z et al.
Npj Parkinson's Disease, 2025
A mutational atlas for Parkin proteostasis.
Clausen L et al.
Nature Communications, 2024
Genetic landscape of Parkinson's disease and related diseases in Luxembourg.
Landoulsi Z et al.
Frontiers in Aging Neuroscience, 2023
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
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
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
Early-Onset Parkinson Disease Screening in Patients From Nigeria.
Milanowski LM et al.
Frontiers in Neurology, 2020
The landscape of Parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson's disease.
Yi W et al.
Human Molecular Genetics, 2019
Mitochondrial MsrB2 serves as a switch and transducer for mitophagy.
Lee SH et al.
Embo Molecular Medicine, 2019
Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.
González-Casacuberta I et al.
Frontiers in Neuroscience, 2019
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Lenglet M et al.
Blood, 2018
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV et al.
Plos Genetics, 2017
Genome-wide assessment of Parkinson's disease in a Southern Spanish population.
Bandrés-Ciga S et al.
Neurobiology of Aging, 2016
Dual Function of Phosphoubiquitin in E3 Activation of Parkin.
Walinda E et al.
The Journal of Biological Chemistry, 2016
Exonic rearrangements in the known Parkinson's disease-causing genes are a rare cause of the disease in South African patients.
van der Merwe C et al.
Neuroscience Letters, 2016
Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease.
Spataro N et al.
Human Molecular Genetics, 2015
Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.
Monroy-Jaramillo N et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2014
Genetic insights into sporadic Parkinson's disease pathogenesis.
Chai C et al.
Current Genomics, 2013
Structure of the human Parkin ligase domain in an autoinhibited state.
Wauer T et al.
The Embo Journal, 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
Proteasome inhibition promotes Parkin-Ubc13 interaction and lysine 63-linked ubiquitination.
Lim GG et al.
Plos One, 2013
Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.
Yonova-Doing E 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
Bridging molecular genetics and biomarkers in lewy body and related disorders.
Ho GJ et al.
International Journal of Alzheimer's Disease, 2011
Analysis of exon dosage using MLPA in South African Parkinson's disease patients.
Keyser RJ et al.
Neurogenetics, 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
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
Identification of a novel Zn2+-binding domain in the autosomal recessive juvenile Parkinson-related E3 ligase parkin.
Hristova VA et al.
The Journal of Biological Chemistry, 2009
Molecular analysis of the parkin gene in South African patients diagnosed with Parkinson's disease.
Bardien S et al.
Parkinsonism & Related Disorders, 2009
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.
Wang Y et al.
Archives of Neurology, 2008
Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3.
Okubadejo N et al.
Plos One, 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
Alterations in the solubility and intracellular localization of parkin by several familial Parkinson's disease-linked point mutations.
Wang C et al.
Journal of Neurochemistry, 2005
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.
Hedrich K et al.
Neurology, 2002