|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
CausalMutation
|
CLINVAR |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
BEFREE |
We have discovered a novel missense mutation (substitution of Thr for Ala4) in exon 1 (GCC to ACC) in two FALS patients from one Japanese FALS family.
|
8179602 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
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
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
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
|
|
0.820 |
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
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
BEFREE |
These results suggest that the Ala4Thr mutation in SOD1 decreases the stability of SOD1 and that this instability may play an important role in the pathogenesis of the degeneration of motor neurons in FALS.
|
8830861 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
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, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis.
|
8830861 |
1996 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
|
9131652 |
1997 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
A SOD1 gene mutation in a patient with slowly progressing familial ALS.
|
10430435 |
1999 |
|
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.
|
12963370 |
2003 |
|
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 |
|
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 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
CausalMutation
|
CLINVAR |
Lack of TDP-43 abnormalities in mutant SOD1 transgenic mice shows disparity with ALS.
|
17543992 |
2007 |
|
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 |