Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
|
27793474 |
2017 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
|
28664294 |
2017 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
|
27100200 |
2016 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
|
27014058 |
2016 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
|
27100199 |
2016 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
|
25741723 |
2015 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
|
25174650 |
2015 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
|
25471389 |
2015 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
|
24217025 |
2014 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
Pick Disease of the Brain
|
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 |
Pick Disease of the Brain
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
|
24011544 |
2014 |