rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.
|
28291249 |
2017 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The G41D mutation in the superoxide dismutase 1 gene is associated with slow motor neuron progression and mild cognitive impairment in a Chinese family with amyotrophic lateral sclerosis.
|
26069299 |
2016 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants.
|
23280792 |
2012 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
rs121912434
|
|
|
0.800 |
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 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Corticomotoneuronal dysfunction in ALS patients with different SOD1 mutations.
|
16793335 |
2006 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Rapid disease progression correlates with instability of mutant SOD1 in familial ALS.
|
16291929 |
2005 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
rs121912434
|
|
|
0.800 |
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 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.
|
9029070 |
1997 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
rs121912434
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Characterization of wild-type and amyotrophic lateral sclerosis-related mutant Cu,Zn-superoxide dismutases overproduced in baculovirus-infected insect cells.
|
7891072 |
1995 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
rs121912434
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |