|
rs762060740
|
|
|
0.030 |
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 |
|
rs762060740
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Transgenic mice (line G1H) expressing a human SOD1 containing a mutation of Gly-93 --> Ala (G93A) develop a motor neuron disease similar to familial amyotrophic lateral sclerosis, but transgenic mice (line N1029) expressing a wild-type human SOD1 transgene do not.
|
8610185 |
1996 |
|
rs762060740
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In the present study, we investigated the time course of microglial (major histocompatibility-II antigen immunoreactivity) and astrocytic (glial fibrillary acidic protein immunoreactivity) activation in relation to the course of motor neuron disease in the TgN(SOD1-G93A)G1H FALS mice.
|
9633809 |
1998 |
|
rs80265967
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1.
|
17146286 |
2006 |
|
rs80265967
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population.
|
8909456 |
1996 |
|
rs80265967
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We found that CSF from MND patients homozygous for the D90A CuZn-superoxide dismutase (CuZn-SOD) mutation, patients with sporadic MND and patients with familial MND without CuZn-SOD mutations significantly increased apoptosis and reduced phosphorylation of neurofilaments in cultured spinal cord neurones when compared with the effects of CSF from patients with other neurological diseases.
|
11912107 |
2002 |
|
rs137852972
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
rs137852972
|
|
|
0.020 |
GeneticVariation |
BEFREE |
N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress.
|
21750110 |
2011 |
|
rs137852973
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
rs137852973
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Gain-of-toxic mutations in the N-glycosylation motif of the seipin/BSCL2 gene (namely, the N88S and S90L mutations) cause autosomal dominant motor neuron diseases, termed 'seipinopathy'.
|
22045697 |
2012 |
|
rs1138272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were no differences in the prevalence of GSTP1 polymorphism I105V and A114V between MND and controls, however the occurrence of CT variant in codon 114 was associated with a higher risk for MND.
|
26295823 |
2015 |
|
rs1159805691
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One mutation, however, giving rise to an aspartic acid to alanine substitution in codon 90 (D90A), was reported only to induce motor neuron disease in homozygous individuals in the Scandinavian population.
|
8909456 |
1996 |
|
rs1169067903
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
rs121909342
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recent studies showed that motor neuron disease-linked mutation, such as G59S mutation, could lead to dysfunction and protein aggregation of DCTN1.
|
31654383 |
2020 |
|
rs121912436
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Wild-type human SOD1 overexpression does not accelerate motor neuron disease in mice expressing murine Sod1 G86R.
|
20573565 |
2010 |
|
rs1239669755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results shed light on the mechanism by which VAP-B(P56S) aggregates are formed and induce familial motor neuron diseases.
|
20207736 |
2010 |
|
rs1445888481
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, to investigate the role of proliferating cells in motor neuron disease, SOD1(G93A) transgenic mice were treated intracerebroventicularly (i.c.v.) with the anti-mitotic drug cytosine arabinoside (Ara-C).I.c.v. delivery of Ara-C accelerated disease progression in SOD1(G93A) mouse model of ALS.
|
22523565 |
2012 |
|
rs1475170339
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we investigated the time course of microglial (major histocompatibility-II antigen immunoreactivity) and astrocytic (glial fibrillary acidic protein immunoreactivity) activation in relation to the course of motor neuron disease in the TgN(SOD1-G93A)G1H FALS mice.
|
9633809 |
1998 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There were no differences in the prevalence of GSTP1 polymorphism I105V and A114V between MND and controls, however the occurrence of CT variant in codon 114 was associated with a higher risk for MND.
|
26295823 |
2015 |
|
rs1990622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
|
24385136 |
2014 |
|
rs267606673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Immunoprecipitation assays revealed abnormal interaction between ATP7A(T994I) and p97/VCP, a protein mutated in two autosomal dominant forms of motor neuron disease.
|
24754450 |
2014 |
|
rs28942073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, H235Y is the first mutation in the β-sheet of the (β/α)₈-barrel domain of the β-subunit that abolishes α-β and β-β dimer formation; the presented patient is the second patient to exhibit the motor neuron disease phenotype with P417L and a non-functional allele of HEXB.
|
23127958 |
2013 |
|
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
|
24385136 |
2014 |
|
rs574548474
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).
|
18790819 |
2009 |
|
rs587777574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported patients, carrying the p.Ser59Leu heterozygous mutation in CHCHD10, from a large family with a mitochondrial myopathy associated with motor neuron disease (MND).
|
30874923 |
2019 |