Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
about
Phenotypic Heterogeneity of Monogenic Frontotemporal DementiaGenetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunitiesRegulation of microglial survival and proliferation in health and diseases.Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanismsHomozygous TREM2 mutation in a family with atypical frontotemporal dementia.More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk.TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model.TREM2 deficiency impairs chemotaxis and microglial responses to neuronal injury.Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status.Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expressionPreparation, crystallization, and preliminary crystallographic analysis of wild-type and mutant human TREM-2 ectodomains linked to neurodegenerative and inflammatory diseasesEarly changes in CSF sTREM2 in dominantly inherited Alzheimer's disease occur after amyloid deposition and neuronal injury.TREM2 in Neurodegenerative Diseases.The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative DiseasesTREM2-Ligand Interactions in Health and Disease.Genetics of FTLD: overview and what else we can expect from genetic studies.The clinical spectrum of sporadic and familial forms of frontotemporal dementia.Identification of a rare coding variant in TREM2 in a Chinese individual with Alzheimer's diseaseContributions of triggering-receptor-expressed-on-myeloid-cells-2 to neurological diseases.Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.Microglia and Aging: The Role of the TREM2-DAP12 and CX3CL1-CX3CR1 Axes.Vps35-dependent recycling of Trem2 regulates microglial function.Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus.Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroupThe Alzheimer's Disease-Associated R47H Variant of TREM2 Has an Altered Glycosylation Pattern and Protein Stability
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P2860
Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Novel compound heterozygous mu ...... otemporal dementia-like family
@ast
Novel compound heterozygous mu ...... otemporal dementia-like family
@en
Novel compound heterozygous mu ...... otemporal dementia-like family
@nl
type
label
Novel compound heterozygous mu ...... otemporal dementia-like family
@ast
Novel compound heterozygous mu ...... otemporal dementia-like family
@en
Novel compound heterozygous mu ...... otemporal dementia-like family
@nl
prefLabel
Novel compound heterozygous mu ...... otemporal dementia-like family
@ast
Novel compound heterozygous mu ...... otemporal dementia-like family
@en
Novel compound heterozygous mu ...... otemporal dementia-like family
@nl
P2093
P2860
P921
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P1476
Novel compound heterozygous mu ...... otemporal dementia-like family
@en
P2093
Ebba Lohmann
Gamze Guven
Hakan Gurvit
Hasmet Hanagasi
Jonathan Rohrer
Murat Emre
Rita Guerreiro
P2860
P304
P3181
P356
10.1016/J.NEUROBIOLAGING.2013.06.005
P407
P5008
P577
2013-07-17T00:00:00Z