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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Nature GeNetics ADVANCE ONLINE PUBLICATION We undertook a two-stage genome-wide association study (GWAS) of Alzheimer’s disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to… Expand
Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848… Expand
Genotype, haplotype and copy-number variation in worldwide human populations
Genome-wide patterns of variation across individuals provide a powerful source of data for uncovering the history of migration, range expansion, and adaptation of the human species. However,… Expand
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an… Expand
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease
Genome-wide association studies (GWAS) have identified several risk variants for late-onset Alzheimer's disease (LOAD). These common variants have replicable but small effects on LOAD risk and… Expand
TREM2 and neurodegenerative disease.
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
IMPORTANCE Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations… Expand
SnapShot: Genetics of Alzheimer’s Disease
Gene offi cial symbol Gene name Location Possible pathways / pathological biological processes MenDeLIAn Genes APP Amyloid β (A4) precursor protein 21q21.3 Damage response?/Amyloid cascade PSEN1… Expand
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
Mutation of the human prion protein gene (PRNP) open reading frame (ORF) accounts for almost all reported familial concurrence of prion disease. The more common mutations globally: octapeptide repeat… Expand
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
- J. Brás, C. Paisán-Ruíz, R. Guerreiro, M. Ribeiro, A. Singleton
- Biology, Medicine
- Neurobiology of Aging
- 1 September 2009
Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a… Expand