rs121912431
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs1131690775
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs1131690781
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs1131690782
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs121912437
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs121912439
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs121912441
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs142812715
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs200161705
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs34324114
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs377607698
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs55824172
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs747481280
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs772747361
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs776098853
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs80356719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs895824243
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs905184241
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Four lines of mice accumulating one of these mutant proteins (G37R) develop severe, progressive motor neuron disease.
|
7605627 |
1995 |
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Using a motor neuron disease mouse model expressing human SOD1-G37R, we herein report the immunogenicity and therapeutic efficacy of two ALS vaccines, tgG-DSE2lim and tgG-DSE5b, based on the notion that native SOD1 would undergo early unfolding in disease to present "disease specific epitopes" (DSE).
|
31324499 |
2019 |
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
To test these possibilities, levels of nitrotyrosine and markers for hydroxyl radical formation were measured in two lines of transgenic mice that develop progressive motor neuron disease from expressing human familial ALS-linked SOD1 mutation G37R.
|
9207139 |
1997 |
rs121912431
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease.
|
16046140 |
2005 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The onset of MND was delayed in these mice compared to the original G93A mice, but they developed the same neuropathologic abnormalities seen in the original G93A mice, albeit at a later time point with fewer vacuoles and more NF inclusions.
|
9382875 |
1997 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background.
|
16973244 |
2007 |
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Mice that overexpress the human Cu,Zn superoxide dismutase-1 mutant G93A develop a delayed and progressive motor neuron disease similar to human amyotrophic lateral sclerosis (ALS).
|
16049935 |
2005 |