Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's diseaseFrontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutationsTDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPTAdditional mechanisms conferring genetic susceptibility to Alzheimer's diseaseA rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death.The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriersCoding variants in TREM2 increase risk for Alzheimer's diseaseDisease-related mutations among Caribbean Hispanics with familial dementia.Alzheimer's disease risk genes and mechanisms of disease pathogenesisFrontobasal gray matter loss is associated with the TREM2 p.R47H variantGenetic characterization of Spinocerebellar ataxia 1 in a South Indian cohortText mining facilitates database curation - extraction of mutation-disease associations from Bio-medical literatureStudy of Alzheimer family case reveals hemochromotosis-associated HFE mutationTREM2 is associated with the risk of Alzheimer's disease in Spanish populationResequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.Alzheimer's disease genetics: from the bench to the clinic.Novel susceptibility loci for Alzheimer's disease.An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance.State of Play in Alzheimer's Disease Genetics.Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.Targeting microglia for the treatment of Alzheimer's Disease.Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal DystrophiesNew endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background
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P2860
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
description
2012 nî lūn-bûn
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2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
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name
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@ast
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@en
type
label
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@ast
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@en
prefLabel
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@ast
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@en
P2093
P2860
P50
P356
P1476
Pooled-DNA sequencing identifi ...... disease Ibero-American cohort.
@en
P2093
Breanna Cooper
Ibero-American Alzheimer Disease Genetics Group Researchers
Sebastian Cervantes
P2860
P2888
P356
10.1186/ALZRT137
P407
P577
2012-08-20T00:00:00Z
P5875
P6179
1021916544