Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. - Wikidata - awgldk - TriplyDB

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

http://www.wikidata.org/entity/Q34398459

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Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia TREM2 in CNS homeostasis and neurodegenerative disease Therapeutic and diagnostic challenges for frontotemporal dementia R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study Additional mechanisms conferring genetic susceptibility to Alzheimer's disease Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms Apolipoprotein E Is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2).Soluble TREM2 induces inflammatory responses and enhances microglial survival.TREM2 in Neurodegenerative Diseases.The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases TREM2-Ligand Interactions in Health and Disease.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Novel susceptibility loci for Alzheimer's disease.Proteomics as an innovative tool to investigate frontotemporal disorders.Divergent Neuroinflammatory Regulation of Microglial TREM Expression and Involvement of NF-κB.Contributions of triggering-receptor-expressed-on-myeloid-cells-2 to neurological diseases.From Common to Rare Variants: The Genetic Component of Alzheimer Disease.Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion.Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.Intracellular trafficking of TREM2 is regulated by presenilin 1.Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup

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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

http://www.wikidata.org/entity/Q34398459

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2014年の論文

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2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@ast

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@en

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@nl

type

label

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@ast

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@en

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@nl

prefLabel

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@ast

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@en

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@nl

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J.NEUROBIOLAGING.2014.04.010

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Neurobiology of Aging

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Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

@en

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Agnès Camuzat

http://www.w3.org/2001/XMLSchema#string

Anne De Septenville

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Edor Kabashi

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Isabelle Le Ber

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Kawtar Bouya-Ahmed

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Paola Caroppo

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Philippe Couarch

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Serena Lattante

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P2860

TREM2 Variants in Alzheimer's Disease

Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

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2419.e23-2419.e25

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10.1016/J.NEUROBIOLAGING.2014.04.010

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