rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
|
22094223 |
2011 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
|
21549128 |
2011 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
|
19618436 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Age and founder effect of SOD1 A4V mutation causing ALS.
|
19176896 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.
|
19259395 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
|
19800308 |
2009 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
rs121912442
|
|
|
0.830 |
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 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 in SOD1-mutated motor neurons in vivo, we produced an affinity-purified rabbit antibody against Prx2 and investigated the immunohistochemical localization of Prx2 and GPx1 in neuronal Lewy body-like hyaline inclusions (LBHIs) in the spinal cords of familial amyotrophic lateral sclerosis (FALS) patients with a two-base pair deletion at codon 126 and an Ala-->Val substitution at codon 4 in the SOD1 gene, as well as in transgenic rats expressing human SOD1 with H46R and G93A mutations.
|
14648077 |
2004 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.
|
12482932 |
2002 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Wild type CuZnSOD and several of the mutants associated with familial amyotrophic lateral sclerosis (FALS) (Ala(4) --> Val, Gly(93) --> Ala, and Leu(38) --> Val) were expressed in Saccharomyces cerevisiae.
|
10625639 |
2000 |
rs121912442
|
|
|
0.830 |
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 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The mean duration of disease was 1.0 +/- 0.4 years, which is significantly less than the mean duration of disease for FALS patients with mutations in SOD1 other than ala4val (p < 0.001).
|
9008494 |
1997 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
rs121912442
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |