|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.
|
8907321 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
BEFREE |
In FALS with the L84V mutation, while the clinical course of the disease was similar, the age at onset was younger in men than women.
|
8815157 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
|
7951252 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
8069312 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|