Pick Disease of the Brain
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
|
30111356 |
2018 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.
|
29578490 |
2018 |
Pick Disease of the Brain
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We used stem cell-derived microglia to study the consequences of missense mutations in the microglial-expressed protein triggering receptor expressed on myeloid cells 2 (TREM2), which are causal for frontotemporal dementia-like syndrome and Nasu-Hakola disease.
|
29606617 |
2018 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia.
|
30033062 |
2018 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL).
|
29336840 |
2018 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease.
|
28716534 |
2017 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations.
|
26758262 |
2016 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several heterozygous missense mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) have recently been linked to risk for a number of neurological disorders including Alzheimer disease (AD), Parkinson disease, and frontotemporal dementia.
|
26374899 |
2015 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD).
|
25160042 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.
|
24119542 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous TREM2 mutations in frontotemporal dementia.
|
24139279 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
|
25042114 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia.
|
24041969 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.
|
24910390 |
2014 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson's disease in addition to Alzheimer's disease.
|
23800361 |
2013 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family.
|
23870839 |
2013 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
|
23318515 |
2013 |
Pick Disease of the Brain
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.
|
23759145 |
2013 |