« Previous
Next »
Journal of the Neurological Sciences
Volume 206, Issue 1
, Pages 65-69
, 15 January 2003
A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis
References
- . Medical progress: amyotrophic lateral sclerosis. N. Engl. J. Med. 2001;344(22):1688–1700
- Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N. Engl. J. Med. 1991;324:1381–1384
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62
-
Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21.
J. Neurol. Sci. 1994;124S:90–95
- . Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis. Lancet. 1993;342:1050–1051
- Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain. 1996;119:1153–1172
- Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum. Mol. Genet. 1998;7:2045–2050
- Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 1997;120:1723–1737
-
.
Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations.
Neuromuscul. Dis. 2000;10:63–68
- Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science. 1993;261:1047–1051
- . Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann. Neurol. 1997;42(5):803–807
- . Clinical implications of the genetics of ALS and other motor neuron diseases. Neurology. 2001;57(1):9–17
- Epidemiology of mutations in superoxide dismutase in amytrophic lateral sclerosis. Ann. Neurol. 1997;41:210–222
- A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum. Mol. Genet. 1994;3:981–987
- Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology. 1997;48:746–751
- Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu/Zn superoxide dismutase. Neurology. 1997;48:55–57
- Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology. 1999;53(5):1064–1071
- Response of a protein structure to cavity-creating mutations and its relation to the hydrophobic effect. Science. 1992;255:178–183
- . Cooperativity induced by a single mutation at the subunit interface of a dimeric enzyme:glutathione reductase. Science. 1992;258:1140–1143
- Probing protein stability with unnatural amino acids. Science. 1992;256:1798–1802
- . Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J. Neurol. Neurosurg. Psychiatry. 1996;61(6):565–572
-
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations.
Neuromuscul. Dis. 2001;11(4):404–410
- A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 1994;200:695–703
- A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. Neurosci. Lett. 1996;205:79–82
- . A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis. Neurosci. Lett. 1999;276:135–137
- A new variant Cu/Zn superoxide dismutase (Val7→Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem. Biophys. Res. Commun. 1994;204:572–577
-
.
A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.
Neuromuscul. Dis. 1997;7:113–116
☆ Drs. Kim, M., Kim, N.H. and Kim, H.J. equally contributed to this work.
PII: S0022-510X(02)00338-6
© 2003 Elsevier Science B.V. All rights reserved.
« Previous
Next »
Journal of the Neurological Sciences
Volume 206, Issue 1
, Pages 65-69
, 15 January 2003
