rs104893877
|
|
|
0.010 |
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 |
rs767543900
|
|
|
0.010 |
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 |
rs63750577
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical phenotype was consistent regarding initial memory impairment and early onset in the late twenties found in all S170F patients.
|
29466804 |
2018 |
rs11142387
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In particular, carrying the A allele of rs11142387 near KLF9 was found to be associated with psychiatric disease and poor memory performance, which warrants further investigations.
|
27923415 |
2017 |
rs74315408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the first case of V180I rare mutation in a Brazilian woman whose clinical condition started with memory impairment for recent events and insomnia with 2 months of evolution, without any other alterations in neurological examination.
|
29095671 |
2017 |
rs775129479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In TUBA4A, we detected a novel frameshift mutation (p.Arg64Glyfs*90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p.Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation.
|
28069311 |
2017 |
rs781587642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In TUBA4A, we detected a novel frameshift mutation (p.Arg64Glyfs*90) leading to a truncated protein in 1 FTD patient (1/459 of 0.22%) with family history of Parkinson's disease and cognitive impairment, and a novel missense mutation (p.Thr381Met) in 2 sibs with familial ALS and memory problems (1 index patient/429, 0.23%) in whom we previously identified a pathogenic Chromosome 9 open reading frame 72 repeat expansion mutation.
|
28069311 |
2017 |
rs11136000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Interestingly, the complex communications between resting-state networks were enhanced in aMCI subjects with the CLU rs11136000 CC genotype and were modulated by the degree of memory impairment, suggesting a reconstructed balance of the resting-state networks in these individuals with an elevated risk of AD.
|
26899953 |
2016 |
rs6265
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease.
|
27521573 |
2016 |
rs759834365
|
|
|
0.010 |
GeneticVariation |
BEFREE |
BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease.
|
27521573 |
2016 |
rs763868966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a novel nonsense mutation (c.1000 G>T, p.(Glu312Ter); also termed p.(E312*)</span>) within a rod domain of GFAP in a 67-year-old Korean man with a history of memory impairment and leukoencephalopathy.
|
24755947 |
2015 |
rs1424266770
|
|
|
0.010 |
GeneticVariation |
BEFREE |
H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
|
24439478 |
2014 |
rs1799945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
H63D mutation in hemochromatosis alters cholesterol metabolism and induces memory impairment.
|
24439478 |
2014 |
rs63751273
|
|
|
0.010 |
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 |
rs8074995
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphism (SNP) rs8074995 lies within the PRKCA region spanned by a rare haplotype associated with schizophrenia in a recent UK study and provides further evidence of PRKCA contribution to memory impairment and susceptibility to schizophrenia.
|
21281445 |
2011 |
rs281865071
|
|
|
0.010 |
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 |
rs781049584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mice carrying mutated human APPswe and PS1 (A246E) transgenes (A/P mice) show age-dependent memory impairment in hippocampus-dependent tasks.
|
15006688 |
2004 |
rs17125721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association between the presenilin-1 mutation Glu318Gly and complaints of memory impairment.
|
11755019 |
2002 |