×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
AlteredExpression
disease
BEFREE
Our results suggest that alternative transcription of PS1 may be associated with FTD .
11973477
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
17197420
2007
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations.
16546171
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
27100199
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Frontotemporal dementia -like phenotypes associated with presenilin-1 mutations.
16948293
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Some PSEN1 mutations are associated with a phenotype fulfilling the clinical criteria of frontotemporal dementia .
19276543
2009
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
28350801
2017
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121
2000
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
15205973
2004
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Mutations in presenilin-1 (PSEN1 ) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17).
17071927
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
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