rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results directly implicate tau as a mediator of specific human mutant A53T αS-mediated abnormalities related to deficits in hippocampal neurotransmission and suggest a mechanism for memory impairment that occurs as a consequence of synaptic dysfunction rather than synaptic or neuronal loss.
|
31168644 |
2019 |
rs63750424
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R406W patients often show a long course of disease with marked memory deficits.
|
29370822 |
2018 |
rs104893877
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A53T mice also exhibit spatial memory deficits at 6 and 12 months, as demonstrated by Y-maze performance.
|
23936403 |
2013 |
rs4680
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The COMT val(158)met polymorphism was associated with abstinence-related working memory deficits in two independent samples of smokers.
|
23828159 |
2013 |
rs281865071
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.
|
18534914 |
2008 |
rs4680
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We propose that an interaction of the DRD2 C957T and COMT Val158Met may be involved in the generation of some working memory deficits in schizophrenia.
|
17113268 |
2007 |
rs281865071
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.
|
15964197 |
2005 |
rs63750264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The Tg-APP (Sw, V717F)/B6 mice at 11-14 months displayed decreased motor coordination, learning and memory deficits, and severely increased anxiety.
|
15114629 |
2004 |
rs63750424
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau.
|
12368474 |
2002 |
rs63750264
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously showed that mice over-expressing a human mutated form of APP (APP(V717F)) display age-dependent recognition memory deficits associated with the progression of amyloid deposition.
|
10718322 |
2000 |
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Expression of P301L-hTau in mouse MEC induces hippocampus-dependent memory deficit.
|
28634382 |
2017 |
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The present study was undertaken to examine whether lycopene or lycopene/vitamin E could exert protective effects on memory deficit and oxidative stress in tau transgenic mice expressing P301L mutation.
|
28269786 |
2017 |
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease.
|
27521573 |
2016 |
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease.
|
27521573 |
2016 |
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A Val(66)Met single-nucleotide polymorphism (SNP) in the brain-derived neurotrophic factor (BDNF) gene impairs activity-dependent BDNF release in cultured hippocampal neurons and predicts impaired memory and exaggerated basal hippocampal activity in healthy humans.
|
23319002 |
2013 |
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A Val(66)Met single-nucleotide polymorphism (SNP) in the brain-derived neurotrophic factor (BDNF) gene impairs activity-dependent BDNF release in cultured hippocampal neurons and predicts impaired memory and exaggerated basal hippocampal activity in healthy humans.
|
23319002 |
2013 |
rs63751273
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Forebrain-specific over-expression of human tau(P301L), a mutation associated with frontotemporal dementia with parkinsonism linked to chromosome 17, in rTg4510 mice results in the formation of NFTs, learning and memory impairment and massive neuronal death.
|
22027994 |
2012 |
rs6265
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A previously reported valine to methionine substitution at amino-acid position 66 (BDNF Val66Met) seems to account for memory disturbance and hippocampal dysfunction.
|
17392738 |
2007 |
rs759834365
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A previously reported valine to methionine substitution at amino-acid position 66 (BDNF Val66Met) seems to account for memory disturbance and hippocampal dysfunction.
|
17392738 |
2007 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
|
30236074 |
2018 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
CO2-sensitive tRNA modification associated with human mitochondrial disease.
|
29760464 |
2018 |
rs1977412
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetic data and cognitively defined late-onset Alzheimer's disease subgroups.
|
30514930 |
2018 |
rs2732260
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
|
22638997 |
2012 |
rs1556424691
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial disorder associated with newborn cardiopulmonary arrest.
|
8511015 |
1993 |