Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu Zn
- 31 October 1994
- journal article
- case report
- Published by Elsevier in Journal of the Neurological Sciences
- Vol. 126 (1) , 77-83
- https://doi.org/10.1016/0022-510x(94)90097-3
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Mild ALS in Japan associated with novel SOD mutationNature Genetics, 1993
- Amyotrophic Lateral Ssclerosis and Structural Defects in Cu,Zn Superoxide DismutaseScience, 1993
- ALS, SOD and peroxynitriteNature, 1993
- Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisNature, 1993
- Linkage of a Gene Causing Familial Amyotrophic Lateral Sclerosis to Chromosome 21 and Evidence of Genetic-Locus HeterogeneityNew England Journal of Medicine, 1991
- Probing the Structural Basis for Enzyme-Substrate Recognition In Cu, Zn Superoxide DismutaseFree Radical Research Communications, 1991
- Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyBiochemical and Biophysical Research Communications, 1990
- Titration of variant DNA sequences differing by a single point-mutation by selective dot-blot hybridization with synthetic oligonucleotidesBiochemical and Biophysical Research Communications, 1989
- Structure and mechanism of copper, zinc superoxide dismutaseNature, 1983
- Epidemiological study of amyotrophic lateral sclerosis and allied disorders in the Kii peninsula (Japan)Journal of the Neurological Sciences, 1967