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rs201258663
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts.
|
25615530 |
2015 |
|
rs2200733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In patients with AF, there was an association between PITX2 loci, rs2200733, and dementia (OR = 2.15, P = 0.008).
|
25494715 |
2015 |
|
rs223330
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two haplotype-tagging single nucleotide polymorphisms (htSNPs), rs223330 and rs223331, were selected from the CISD2 gene to test the association between their polymorphisms and the risk for dementia, and how ApoE ɛ4 status, sex, hypertension, and type 2 diabetes mellitus might modify this association.
|
26154755 |
2015 |
|
rs223331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two haplotype-tagging single nucleotide polymorphisms (htSNPs), rs223330 and rs223331, were selected from the CISD2 gene to test the association between their polymorphisms and the risk for dementia, and how ApoE ɛ4 status, sex, hypertension, and type 2 diabetes mellitus might modify this association.
|
26154755 |
2015 |
|
rs2420616
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 212 patients with Parkinson's disease (PD), we investigated two polymorphisms within the G-protein coupled receptor kinase 5 (GRK5) gene (rs2420616, rs4752293) to determine a possible risk factor for dementia.
|
26614013 |
2015 |
|
rs4752293
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In 212 patients with Parkinson's disease (PD), we investigated two polymorphisms within the G-protein coupled receptor kinase 5 (GRK5) gene (rs2420616, rs4752293) to determine a possible risk factor for dementia.
|
26614013 |
2015 |
|
rs4879809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In silico analysis of SIGMAR1 variant (rs4879809) segregating in a consanguineous Pakistani family showing amyotrophic lateral sclerosis without frontotemporal lobar dementia.
|
26205306 |
2015 |
|
rs571825723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course.
|
25595498 |
2015 |
|
rs63750907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia.
|
25812849 |
2015 |
|
rs63751287
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation p.M233L was associated with prominent very early onset, rapidly progressive dementia, and neurologic symptoms, whereas p.R352C was associated with a progressive dementia, psychiatric syndrome, and chronic disease course.
|
25595498 |
2015 |
|
rs797044603
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutations of Q33X, Y38C and T66M cause Nasu-Hakola disease (NHD) which is characterized by early onset of dementia and bone cysts.
|
25615530 |
2015 |
|
rs11136000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs11136000 major C allele-previously linked with reduced CLU expression and with increased risk for dementia-predicted faster expansion, independently of dementia status or ApoE genotype.
|
24806679 |
2014 |
|
rs1801132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+975], rs6557171, rs9397456, and rs1884049) and subjects with no dementia (Clinical Dementia Rating, CDR 0) and very mild dementia (CDR 0.5).
|
23567436 |
2014 |
|
rs1884049
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+975], rs6557171, rs9397456, and rs1884049) and subjects with no dementia (Clinical Dementia Rating, CDR 0) and very mild dementia (CDR 0.5).
|
23567436 |
2014 |
|
rs387906709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we show that ALS/dementia-linked UBQLN2(P497H) transgenic mice develop neuronal pathology with ubiquilin2/ubiquitin/p62-positive inclusions in the brain, especially in the hippocampus, recapitulating several key pathological features of dementia observed in human patients with UBQLN2 mutations.
|
25246588 |
2014 |
|
rs9397456
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Significant association was found between ESR1 polymorphisms (rs9340799 [ESR1+351], rs1801132 [ESR1+975], rs6557171, rs9397456, and rs1884049) and subjects with no dementia (Clinical Dementia Rating, CDR 0) and very mild dementia (CDR 0.5).
|
23567436 |
2014 |
|
rs121909334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS).
|
23349634 |
2013 |
|
rs2306604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The single nucleotide polymorphism (SNP) A>G rs2306604 in the gene encoding mitochondrial transcription factor A (TFAM) has been associated with Alzheimer's disease, with the A allele being recognised as a risk factor, but has not been studied in other types of dementia.
|
24184878 |
2013 |
|
rs2618516
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association of connectivity with the SPON1 variant at rs2618516 on chromosome 11 (11p15.2) reached connectome-wide, genome-wide significance after stringent statistical corrections were enforced, and it was replicated in an independent subsample. rs2618516 was shown to affect brain structure in an elderly population with varying degrees of dementia.
|
23471985 |
2013 |
|
rs373885474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hereby, we describe a patient affected by semantic variant of primary progressive aphasia (svPPA) with a highly positive family history of dementia, carrying a novel GRN missense variation in exon 11 [g.2897 C > T (p.Thr409Met)], predicted in silico to be damaging to protein structure and function.
|
23624518 |
2013 |
|
rs387906789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS).
|
23349634 |
2013 |
|
rs63750082
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The PSEN1 Gly206Ala mutation is notably frequent in unrelated Puerto Rican immigrants with dementia in Philadelphia.
|
23114514 |
2013 |
|
rs63750802
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).
|
22882713 |
2013 |
|
rs63751032
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R).
|
22882713 |
2013 |
|
rs770237371
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS).
|
23349634 |
2013 |