|
rs121912444
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.
|
26362407 |
2015 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
|
rs121912444
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
|
23280792 |
2012 |
|
rs121912444
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.
|
21257910 |
2011 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
|
rs121912444
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS.
|
17543992 |
2007 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
|
17653917 |
2007 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
10400992 |
1999 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS.
|
8830861 |
1996 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
|
rs121912444
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
|
7836951 |
1994 |
|
rs121912444
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |