Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
|
29316780 |
2018 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations.
|
16948293 |
2006 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
|
21297264 |
2011 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.
|
23948899 |
2013 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
|
11710891 |
2001 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
|
8910898 |
1996 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
|
10447269 |
1999 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
|
11684347 |
2001 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
|
9189043 |
1997 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
|
21373759 |
2011 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
|
9196071 |
1997 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
|
17553989 |
2007 |
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 |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
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 |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
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 |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
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 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
|
20145736 |
2010 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.
|
17288597 |
2007 |