|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
|
27073747 |
2016 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
|
27014058 |
2016 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
|
27100200 |
2016 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
|
| 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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
|
28664294 |
2017 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
| Entrez Id: |
5663 |
| Gene Symbol: |
PSEN1 |
PSEN1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
|
27793474 |
2017 |
|
| 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 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |