|
rs377633002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The A79G sequence variant was not found in 55 patients with ALS or in 50 non-neurological controls.
|
9771796 |
1998 |
|
rs946135215
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SOD1) mutations, transgenic mice expressing a amyotrophic lateral sclerosis-linked SOD1 mutant (SOD1(G37R)) were mated with transgenic mice expressing human neurofilament heavy (NF-H) subunits.
|
9689131 |
1998 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Consistent with this, we have demonstrated that overexpression of Bcl-2, a protein that inhibits apoptosis, attenuates neurodegeneration produced by the familial ALS-linked SOD1 mutant G93A (mSOD1).
|
10582606 |
1999 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic mice that express a mutant Cu,Zn-SOD, Gly93 --> Ala (G93A), have been shown to develop amyotrophic lateral sclerosis (ALS) symptoms.
|
10102580 |
1999 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The fragmentation of the GA of Betz cells was identical to that previously reported in spinal cord motor neurons from patients with sporadic ALS and in transgenic mice expressing the G93A mutation of the gene encoding the Cu/Zn superoxide dismutase.
|
10223416 |
1999 |
|
rs121912442
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To determine the role of advanced glycation endproducts (AGE) in the pathogenesis of familial amyotrophic lateral sclerosis (ALS) with superoxide dismutase-1 (SOD1) mutation, we investigated the immunohistochemical localization of N(epsilon)-carboxymethyl-lysine (CML), one of the major AGE structures, in spinal cords from three familial ALS patients with a heterozygous Ala to Val substitution at codon 4 in the gene for SOD1.
|
10090670 |
1999 |
|
rs121912431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To investigate whether high neurofilament (NF) content and large axonal caliber are factors that predispose motor neurons to selective degeneration in ALS, we generated mice expressing a mutant form of superoxide dismutase 1 (SOD1(G37R)) linked to familial ALS in a context of one allele for each NF gene being disrupted.
|
11050249 |
2000 |
|
rs121912436
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One, caused by a G86R mutation in the superoxide dismutase-1 (SOD-1) gene associated with familial ALS, has been subjected to extensive quantitative analyses in the spinal cord.
|
10578106 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study attempted to determine the effect of HUCB on SOD1 mice (transgenic B6SJL-TgN(SOD1-G93A)1GUR), which have a mutation of the human transgene, (CuZn superoxide dismutase gene SOD1) that has been associated with amyotrophic lateral sclerosis.
|
10896029 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic mice with several copies of a mutated human superoxide dismutase 1 (Gly93-Ala substitution) gene, i.e. a mutation responsible for the development of familial amyotrophic lateral sclerosis (ALS), integrated into the mouse genome, develop a slowly progressive paralysis of the hind-limbs accompanied by a corresponding degeneration of spinal cord neuronal tissue.
|
10726972 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To assess the role of p53-mediated apoptosis in amyotrophic lateral sclerosis, mice deficient in both p53 alleles (p53-/-) were crossed with transgenic mice expressing the G93A mutant (G93A+), creating novel transgenic knockout mice.
|
10964497 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Transgenic mice expressing a mutated (G93A) human Cu/Zn superoxide dismutase (SOD1) develop motor neuron pathology and clinical symptoms similar to those seen in patients with amyotrophic lateral sclerosis.
|
10737625 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Caspases play an instrumental role in neurodegeneration in transgenic mSOD1(G93A) mice, which suggests that caspase inhibition may have a protective role in ALS.
|
10764647 |
2000 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In the first family the ALS patients were homozygotes for D90A, while in the second, all ALS patients were heterozygotes.
|
10809943 |
2000 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study confirms the earlier described characteristic phenotype reported in D90A homozygous ALS patients in Scandinavia and supports the theory of the existence of a strong modifying factor in some cases of ALS associated with mutations in the CuZn-SOD gene.
|
11127534 |
2000 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Preserved slow conducting corticomotoneuronal projections in amyotrophic lateral sclerosis with autosomal recessive D90A CuZn-superoxide dismutase mutation.
|
10869061 |
2000 |
|
rs1438565133
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Transgenic mice expressing a mutated (G93A) human Cu/Zn superoxide dismutase (SOD1) develop motor neuron pathology and clinical symptoms similar to those seen in patients with amyotrophic lateral sclerosis.
|
10737625 |
2000 |
|
rs121912438
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
11717358 |
2001 |
|
rs121912443
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
11717358 |
2001 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The findings suggest an essentially normal amount and activity of D90A mutant CuZn-SOD in CNS tissues of ALS cases.
|
11408340 |
2001 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The D90A mutation has been well described and clearly shown to cause recessive ALS.
|
11220750 |
2001 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial amyotrophic lateral sclerosis (ALS) with the autosomal-recessively inherited D90A CuZn-superoxide dismutase (CuZn-SOD) mutation is characterized by a stereotypic slowly progressive, distinctive phenotype and very slow central motor conduction.
|
11150970 |
2001 |
|
rs80265967
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One patient appears to have autosomal recessive adult-onset ALS associated with homozygosity for D90A and presents the characteristic phenotype of very slowly ascending paresis with both lower and upper motor neurone signs.
|
11284995 |
2001 |
|
rs1426039367
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
11717358 |
2001 |
|
rs121912459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.
|
11220750 |
2001 |