Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease - Wikidata - wikimedia - TriplyDB

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

http://www.wikidata.org/entity/Q28254930

about

Genomic variants, genes, and pathways of Alzheimer's disease: An overview.NOTCH3 variants and risk of ischemic stroke.Association of exome sequences with plasma C-reactive protein levels in >9000 participants.Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.Genetic architectures of psychiatric disorders: the emerging picture and its implications.Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Application of next-generation sequencing technologies in Neurology.Genomics in neurological disorders.Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment.The MTHFR 677T allele may influence the severity and biochemical risk factors of Alzheimer's disease in an Egyptian population The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk.A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.Pathways to Alzheimer's disease.Genetics in psychiatry.Very early-onset inflammatory bowel disease: gaining insight through focused discovery.Novel susceptibility loci for Alzheimer's disease.Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function.TYROBP genetic variants in early-onset Alzheimer's disease.Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.Developing DNA methylation-based diagnostic biomarkers.The genes associated with early-onset Alzheimer's disease.

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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

http://www.wikidata.org/entity/Q28254930

description

2012 nî lūn-bûn

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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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Exome sequencing reveals an un ...... amily with Alzheimer's disease

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Exome sequencing reveals an un ...... amily with Alzheimer's disease

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J.NEUROBIOLAGING.2011.10.009

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Neurobiology of Aging

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Exome sequencing reveals an un ...... amily with Alzheimer's disease

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Burcu Dursun

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Ebba Lohmann

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Emma Kinsella

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Hakan Gurvit

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Hasmet Hanagasi

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Jesse Raphael Gibbs

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José Miguel Brás

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Murat Emre

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Nga Luu

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Nicole Gurunlian

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

Exome sequencing reveals VCP mutations as a cause of familial ALS

Fast and accurate short read alignment with Burrows-Wheeler transform

The Sequence Alignment/Map format and SAMtools

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

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Catarina R. Oliveira

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51864108

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Alzheimer's disease

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