References
- Ince P. G., Lowe J., Shaw P. J. Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol 1998; 24: 104–17
- Andersen P. M., Sims K. B., Xin W. W., Kiely R., O'Neill G., Ravits J., et al. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord 2003; 4: 62–73
- Rosen D. R., Siddique T., Patterson D., Figlewicz D. A., Sapp P., Hentati A., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59–62
- Institute of Psychiatry, The ALS Association and the MND Association. The ALS online database for mutation in ALS related genes 2000–2004. http://alsod1.iop.kcl.ac.uk/.
- Cedarbaum J. M., Stambler N., Malta E., Fuller C., Hilt D., Thurmond B., et al. The ALSFRS‐R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (phase III). J Neurol Sci 1999; 169: 13–21
- Bruijn L. I., Miller T. M., Cleveland D. W. Unravelling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci 2004; 27: 723–49
- Hart P. J. Pathogenic superoxide dismutase structure, folding, aggregation and turnover. Curr Opin Chem Biol 2006; 10: 131–8
- Wang J., Slunt H., Gonzales V., Fromholt D., Coonfield M., Copeland N. G., et al. Copper‐binding‐site‐null SOD1 causes ALS in transgenic mice: aggregates of non‐native SOD1 delineate a common feature. Hum Mol Genet 2003; 12: 2753–64
- Hayward L. J., Rodriguez J. A., Kim J. W., Tiwari A., Goto J. J., Cabelli D. E., et al. Decreased metallation and activity in subsets of mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis. J Biol Chem 2002; 277: 15923–31
- Juneja T., Pericak‐Vance M. A., Laing N. G., Dave S., Siddique T. Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu/Zn superoxide dismutase. Neurology 1997; 48: 55–7
- Andersen P. M., Nilsson P., Keranen M. L., Forsgren L., Hagglund J., Karlsborg M., et al. Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn‐superoxide dismutase mutations in Scandinavia. Brain 1997; 10: 1723–37
- Kawamata J., Shimohama S., Takano S., Harada K., Ueda K., Kimura J. Novel G16S (GGC‐AGC) mutation in the SOD1 gene in a patient with apparently sporadic young‐onset amyotrophic lateral sclerosis. Hum Mutat 1997; 9: 356–8
- Boukaftane Y., Khoris J., Moulard B., Salachas F., Meininger V., Malafosse A., et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192–6
- Deng H. X., Tainer J. A., Mitsumoto H., Ohnishi A., He X., Hung W. Y., et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113–6
- Jones C. T., Swingler R. J., Brock D. J. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994; 3: 649–50
- Nakamizo T., Urushitani M., Inoue R., Shinohara A., Sawada H., Honda K., et al. Protection of cultured spinal motor neurons by estradiol. Neuroreport 2000; 11: 3493–7
- O'Neill K., Chen S., Diaz Brinton R. Impact of the selective estrogen receptor modulator, tamoxifen, on neuronal outgrowth and survival following toxic insults associated with ageing and Alzheimer's disease. Exp Neurol 2004; 188: 268–78
- Andersen P. M., Morita M., Brown R. H., Jr. Genetics of amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis, R. H Brown, Jr, V Meininger, M Swash. Martin Dunitz Publishers Ltd, London 1999; 223–50
- Murakami T., Warita H., Hayashi T., Sato K., Manabe Y., Mizuno S., et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci 2001; 189: 45–7
- Aoki M., Abe K., Houi K., Ogasawara M., Matsubara Y., Kobayashi T., et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 1995; 37: 676–9