|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
|
27978769 |
2017 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
|
28222900 |
2017 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.
|
23062701 |
2013 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Extensive genetics of ALS: a population-based study in Italy.
|
23100398 |
2012 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.
|
21700728 |
2012 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom.
|
20562451 |
2011 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Exposure of hydrophobic surfaces initiates aggregation of diverse ALS-causing superoxide dismutase-1 mutants.
|
20399791 |
2010 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.
|
20309572 |
2010 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
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 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
|
15987780 |
2005 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
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 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.
|
15610047 |
2004 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
|
15258228 |
2004 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.
|
11676987 |
2001 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
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 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |