|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
|
15201367 |
2004 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
BEFREE |
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.
|
25948718 |
2015 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
|
9328472 |
1997 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
|
11063718 |
2000 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
|
8577393 |
1995 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
|
15365148 |
2004 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
|
1671712 |
1991 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
BEFREE |
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
|
15365148 |
2004 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |
|
Cerebral Amyloid Angiopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
|
15365148 |
2004 |
|
Cerebral Amyloid Angiopathy
|
|
0.020 |
GeneticVariation
|
BEFREE |
According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy.
|
28304299 |
2017 |
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal.
|
28304299 |
2017 |
|
Dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene.
|
15365148 |
2004 |
|
Familial Alzheimer Disease (FAD)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Familial Alzheimer disease associated with A713T mutation in APP.
|
15488330 |
2004 |
|
Frontotemporal dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal.
|
28304299 |
2017 |
|
Pick Disease of the Brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal.
|
28304299 |
2017 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a case of dementia clinically compatible with frontotemporal dementia in an APP Ala713Thr mutation carrier in which both [18F]Florbetapir PET uptake and Aβ1-42 cerebrospinal fluid levels were normal.
|
28304299 |
2017 |
|
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene.
|
15365148 |
2004 |