about
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismC9orf72 repeat expansions are a rare genetic cause of parkinsonismAutosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studiesLoss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagyDiagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling studyDeletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients.Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell linesParkinson's disease in GTP cyclohydrolase 1 mutation carriers.Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.Alpha-synuclein repeat variants and survival in Parkinson's diseaseRole of mendelian genes in "sporadic" Parkinson's disease.G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.De novo mutations in HCN1 cause early infantile epileptic encephalopathy.Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson diseaseDeletion of the parkin and PACRG gene promoter in early-onset parkinsonism.Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson diseaseFine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.EIF4G1 mutations do not cause Parkinson's disease.Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.Large-scale replication and heterogeneity in Parkinson disease genetic loci.Large-scale assessment of polyglutamine repeat expansions in Parkinson diseaseA systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study.A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.From genes to proteins in mendelian Parkinson's disease: an overview.Genetic characteristics of leucine-rich repeat kinase 2 (LRRK2) associated Parkinson's disease.What genetics tells us about the causes and mechanisms of Parkinson's disease.Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.PARKIN Inactivation Links Parkinson's Disease to Melanoma.LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort.
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
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name
Suzanne Lesage
@ast
Suzanne Lesage
@en
Suzanne Lesage
@es
Suzanne Lesage
@nl
type
label
Suzanne Lesage
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Suzanne Lesage
@en
Suzanne Lesage
@es
Suzanne Lesage
@nl
prefLabel
Suzanne Lesage
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Suzanne Lesage
@en
Suzanne Lesage
@es
Suzanne Lesage
@nl
P106
P21
P31
P496
0000-0003-4158-2601