×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
21220647
2011
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity.
12145308
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
7881433
1994
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
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
GeneticVariation
UNIPROT
We report a novel missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD ) gene of affected members of a Japanese kindred segregating familial amyotrophic lateral sclerosis (FALS ) through at least three successive generations.
7501156
1995
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Single-site mutants in the Cu,Zn superoxide dismutase (SOD ) gene (SOD1 ) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS ).
8351519
1993
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel SOD mutant and ALS.
7700376
1995
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan.
10732812
1997
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
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
GeneticVariation
UNIPROT
A novel L67P SOD1 mutation in an Italian ALS patient.
21247266
2011
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
A novel SOD1 gene mutation in familial ALS with low penetrance in females.
11535232
2001
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
18378676
2008
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
15056757
2004
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
7870076
1994
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
"""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
GeneticVariation
UNIPROT
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
12402272
2002
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
9455977
1997
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
8446170
1993
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.
8682505
1996
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis.
9541385
1998
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
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