Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
about
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's diseaseParkinson's disease: from monogenic forms to genetic susceptibility factorsGenetic perspective on the role of the autophagy-lysosome pathway in Parkinson diseaseTowards a unifying, systems biology understanding of large-scale cellular death and destruction caused by poorly liganded iron: Parkinson's, Huntington's, Alzheimer's, prions, bactericides, chemical toxicology and others as examplesLife expectancy in Gaucher disease type 1A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson diseaseMulticenter analysis of glucocerebrosidase mutations in Parkinson's disease.Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's diseaseRethinking fatigue in Gaucher diseaseThe Progress of Induced Pluripotent Stem Cells as Models of Parkinson's DiseaseInduced pluripotent stem cells for modeling neurological disordersClinical manifestations and management of Gaucher diseaseGenetically engineered mouse models of Parkinson's diseaseThe genetics and neuropathology of Parkinson's diseaseGlucocerebrosidase and Parkinson disease: Recent advancesUpdate on genetics of parkinsonismThe relationship between glucocerebrosidase mutations and Parkinson diseaseGenetics in Parkinson disease: Mendelian versus non-Mendelian inheritanceThe p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson diseaseNiemann-Pick C disease gene mutations and age-related neurodegenerative disordersGenetic susceptibility in Parkinson's diseaseGlucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson diseaseAlpha-synuclein redistributes to neuromelanin lipid in the substantia nigra early in Parkinson's disease.Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population.alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders.Lysosomal adaptation: how the lysosome responds to external cuesIn silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools.Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.Lipid classes and fatty acid patterns are altered in the brain of γ-synuclein null mutant mice.The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher RegistryFamilial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutationsParkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTSFactors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluidComparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.The risk of Parkinson's disease in type 1 Gaucher disease.Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.Lysosomes and α-synuclein form a dangerous duet leading to neuronal cell death.Gaucher disease: insights from a rare Mendelian disorder.The link between the GBA gene and parkinsonism
P2860
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P2860
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@ast
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@en
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@nl
type
label
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@ast
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@en
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@nl
prefLabel
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@ast
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@en
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@nl
P2093
P356
P1476
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
@en
P2093
Hanna Rosenbaum
Judith Aharon-Peretz
Ruth Gershoni-Baruch
P304
P356
10.1056/NEJMOA033277
P407
P577
2004-11-01T00:00:00Z