Search Results - "Bellenguez, C"
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Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology
Published in Molecular psychiatry (01-06-2017)“…A recent genome-wide association meta-analysis for Alzheimer’s disease (AD) identified 19 risk loci (in addition to APOE ) in which the functional genes are…”
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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy
Published in Scientific reports (11-03-2019)“…The present study describes the genetic architecture of the isolated populations of Cilento, through the analysis of exome sequence data of 245 representative…”
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Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology
Published in Molecular psychiatry (01-11-2013)“…Genome-wide association studies (GWAS) have identified a region upstream the BIN1 gene as the most important genetic susceptibility locus in Alzheimer’s…”
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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
Published in Human molecular genetics (15-01-2011)“…We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD…”
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17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Published in Molecular psychiatry (01-08-2017)“…To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case–control study using whole-exome sequencing data from 522…”
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Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways: Alzheimers Dement
Published in Alzheimer's & dementia (2020)“…IntroductionVariability exists in the disease trajectories of Alzheimer's disease (AD) patients. We performed a genome‐wide association study to examine rate…”
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Follow-up of loci from the International Genomics of Alzheimer’s Disease Project identifies TRIP4 as a novel susceptibility gene
Published in Translational psychiatry (04-02-2014)“…To follow-up loci discovered by the International Genomics of Alzheimer’s Disease Project, we attempted independent replication of 19 single nucleotide…”
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New susceptibility locus for hypertension on chromosome 8q by efficient pedigree-breaking in an Italian isolate
Published in Human molecular genetics (15-05-2006)“…Essential hypertension (EH) affects a large proportion of the adult population in Western countries and is a major risk factor for cardiovascular diseases. EH…”
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