Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
|
30200536 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
|
30180983 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
|
29175279 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.
|
29466804 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
|
29404783 |
2018 |
Alzheimer disease, familial, type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
|
28664294 |
2017 |
Alzheimer disease, familial, type 3
|
0.900 |
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 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Several leucine>proline substitutions in other PSEN1 transmembrane helices revealed aggressive AD phenotypes.
|
28532645 |
2017 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
|
27793474 |
2017 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
|
27100200 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
|
27014058 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
|
27073747 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
|
27100199 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
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 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.
|
26549787 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
Alzheimer disease, familial, type 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
We collected blood DNA from 120 late-onset Alzheimer's disease (AD) patients and 115 healthy matched controls and analysed the methylation levels of genes involved in amyloid-beta peptide production (PSEN1 and BACE1), in DNA methylation (DNMT1, DNMT3A and DNMT3B), and in one-carbon metabolism (MTHFR), searching for correlation with age and gender, with biomarkers of one-carbon metabolism (plasma homocysteine, and serum folate and vitamin B12 levels), and with disease status (being healthy or having AD).
|
26079324 |
2015 |
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
|
25174650 |
2015 |