Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
|
28664294 |
2017 |
Frontotemporal dementia
|
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 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
|
27793474 |
2017 |
Frontotemporal dementia
|
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 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
Frontotemporal dementia
|
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 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
|
27014058 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
|
27100200 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
|
27100199 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
|
25174650 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
|
26194182 |
2015 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
|
25741723 |
2015 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (APP), PSEN1/2, MAPT (microtubule-associated protein tau), fused in sarcoma (FUS), granulin (GRN) and TAR DNA-binding protein 43 (TDP-43)) to PD and PD plus dementia (PD+D) in a discovery sample of 376 individuals with PD and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with PD, 93 cases with Lewy body disease on neuropathological examination, 613 individuals with Alzheimer's disease (AD), 182 cases with frontotemporal dementia and 1014 general population controls.
|
25604855 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
|
25471389 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
|
24418614 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
|
24880964 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
|
24217025 |
2014 |