×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
CLINVAR
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
20577002 2010
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Metal-free ALS variants of dimeric human Cu,Zn-superoxide dismutase have enhanced populations of monomeric species.
20404910 2010
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.
20399791 2010
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.
18951903 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
19800308 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.
19259395 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
19483195 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Age and founder effect of SOD1 A4V mutation causing ALS.
19176896 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
19618436 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.
19635794 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS.
17543992 2007
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations.
16793335 2006
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
15987780 2005
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.
16291929 2005
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
15258228 2004
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
14506936 2003
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.
12482932 2002
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
11676987 2001
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.
10889018 2000
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
9029070 1997
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.
7655471 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
7496169 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
7997024 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells.
7891072 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
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