|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
|
29175279 |
2018 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
|
26145164 |
2015 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
|
25394380 |
2015 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
|
24582897 |
2014 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
|
22529981 |
2012 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
|
21501661 |
2011 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.
|
19667325 |
2009 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
|
17197420 |
2007 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
|
16305624 |
2006 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
|
15364419 |
2004 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
|
12370477 |
2002 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
|
11796781 |
2002 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
|
11524469 |
2001 |
|
rs63750053
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
|
11561050 |
2001 |