|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer disease type 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
|
1671712 |
1991 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
|
1678058 |
1991 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
|
1303239 |
1992 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
|
1465129 |
1992 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
More missense in amyloid gene.
|
1303275 |
1992 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
|
1302033 |
1992 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
|
8267572 |
1993 |
|
Alzheimer's Disease
|
|
0.760 |
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
|
|
0.760 |
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
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
Amyloid angiopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
Senile Plaques
|
|
0.010 |
GeneticVariation
|
BEFREE |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
|
Alzheimer's Disease
|
|
0.760 |
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
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
|
10671319 |
2000 |
|
Cerebral Amyloid Angiopathy, Hereditary
|
|
0.010 |
GeneticVariation
|
BEFREE |
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
|
10671319 |
2000 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
This was unusually severe CAA reminiscent of the Flemish amyloid precursor protein (A692G) mutation we reported previously, which causes Alzheimer's disease and/or cerebral haemorrhages.
|
11701593 |
2001 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
|
11311152 |
2001 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
Alzheimer's Disease
|
|
0.760 |
GeneticVariation
|
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |