References
- Mulder D. W., Kurland L. T., Offord K. P., Beard C. M. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986; 36: 511–7
- Deng H. X., Hentati A., Tainer J. A., Iqbal Z., Cayabyab A., Hung W. J., et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science 1993; 261: 1047–51
- Rosen D. R., Siddique T., Patterson D., Figlewicz D. A., Sapp P., Hentati A., et al. Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59–62
- Mitchell J. D., Gatt J. A., Phillips T. M., Houghton E., Rostron G., Wignall C. Cu/Zn superoxide dismutase, free radicals, and motor neuron disease. Lancet 1993; 342: 1051–2
- 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 Sclerosis Other Motor Neuron Disord 2003; 4: 62–73
- Brooks B. R., Miller R. G., Swash M., Munsat T. L. E1 Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Sclerosis Other Motor Neuron Disord 2000; 1: 293–9
- Jacobsson J., Jonsson P. A., Andersen P. M., Forsgren L., Marklund S. L. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn‐superoxide dismutase mutations. Brain 2001; 124: 1461–6
- Esteban J., Rosen D. R., Bowling A. C., Sapp P., McKenna‐Yasek D., O'Regan J. P., et al. Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997–8
- Ikeda M., Abe K., Aoki M., Sahara M., Watanabe M., Shoji M., et al. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology 1995; 45: 2038–42
- Orrell R. W., Habgood J. J., Malaspina A., Mitchell J., Greenwood J., Lane R. J., et al. Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci 1999; 169: 56–60
- Garcia‐Redondo A., Bustos F., Juan‐Y‐Seva B., Del Hoyo P., Jimenez S., Campos Y., et al. Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis. Muscle Nerve 2002; 26: 274–8
- Sato T., Yamamoto Y., Nakanishi T., Fukada K., Sugai F., Zhou Z., et al. Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: mass spectrometric and genomic analyses. J Neurol Sci 2004; 218: 79–83
- Radunovic A., Leigh P. N. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996; 61: 565–72
- Cudkowicz M. E., McKenna‐Yasek D., Sapp P. E., Chin W., Geller B., Hayden D. L., et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 210–21
- Nelson L. M., Matkin C., Longstreth W. T Jr., McGuire V. Population‐based case‐control study of amyotrophic lateral sclerosis in western Washington State. II. Diet. Am J Epidemiol 2000; 151: 164–73
- Rezania K., Yan J., Dellefave L., Deng H. X., Siddique N., Pascuzzi R. T., et al. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy. Amyotroph Lateral Sclerosis Other Motor Neuron Disord 2003; 4: 162–6