×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
CausalMutation
CLINVAR
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
GeneticVariation
CLINVAR
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Frontotemporal dementia
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
7550356 1995
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
7596406 1995
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
8634712 1995
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
8910898 1996
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
9189043 1997
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
9196071 1997
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
9225696 1997
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
9384602 1998
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Presenilin mutations in Alzheimer's disease.
9521418 1998
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17 ), historically termed Pick's disease.
9641683 1998
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
9680315 1997
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
10412802 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
10447269 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
10468510 1999
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
10489057 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
11524469 2001
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
11684347 2001
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The genetic and pathological classification of familial frontotemporal dementia.
11708988 2001
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
11710891 2001
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation.
11756436 2002