Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
|
7550356 |
1995 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
|
8634712 |
1995 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
|
8910898 |
1996 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
|
9189043 |
1997 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
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 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
|
9225696 |
1997 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
|
9384602 |
1998 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin mutations in Alzheimer's disease.
|
9521418 |
1998 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
|
9680315 |
1997 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
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 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
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 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
CTD_human |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
|
11094121 |
2000 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
|
11524469 |
2001 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
|
11684347 |
2001 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
|
11710891 |
2001 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.
|
11914409 |
2002 |
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that alternative transcription of PS1 may be associated with FTD.
|
11973477 |
2002 |
Frontotemporal dementia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that alternative transcription of PS1 may be associated with FTD.
|
11997713 |
2002 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations.
|
12053127 |
2002 |