References
- Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in the Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis [published erratum appears in Nature 1993; 364: 362]. Nature. 1993;362:59–62.
- Deng HX, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung WY, et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science. 1993; 261:1047–51.
- Andersen PM, Morita M, Brown RH. Genetics of amyo- trophic lateral sclerosis. an overview. In: Brown RH, Meininger V, Swash M, editors. Amyotrophic lateral sclerosis. London: Martin Duniz Ltd; 2000. pp 223–50.
- Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correction between genotype and clinical features. J Neurol Neurosurg Psychiatry. 1996;61:565–72.
- Abe K, Aoki M, Ikeda M, Watanabe M, Hirai S, Itoyama Y. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci. 1996;136:108–16.
- Andersen PM, Nilsson P, Kera¨nen ML, Forsgren L, Ha¨gglund J, Karlsborg M, et al. Phenotypic heterogeneity in motor neuron disease patients with Cu/Zn-superoxide dismutase mutations in Scandinavia. Brain. 1997;120:1723–37.
- Orrell RW, Habgood JJ, Malaspina A, Mitchell J, Greenwood J, Lane RJ, et al. Clinical characteristics of SOD1 gene mutations in UK families with ALS. J Neurol Sci. 1999;169:56–60.
- 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.
- Kostrzewa M, Damian MS, Mu¨ ller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet. 1996;98:48–50.
- Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic later sclerosis. Neuromuscul Disord. 1997;7:113–6.
- Ito K, Uchiyama T, Fukutake T, Arai K, Kanesaka T, Hattori T. Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene. Rinsho Shinkeigaku. 2002;42:175–7.
- Tan CF, Piao YS, Hayashi S, Obata H, Umeda Y, Sato M, et al. Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation. Acta Neuropathol. 2004;108:332–6.
- Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos- Picot I, Nicole A, et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet. 1995;56:592–6.
- Carpenter RJ, McDonald TJ, Howard FM. The otolaryngo- logic presentation of amyotrophic lateral sclerosis. Otolaryngology. 1978;86:479–84.
- Miller RG, Munsat TL, Swash M, Brooks BR. Consensus guidelines for the design and implementation of clinical trials in ALS. J Neurol Sci. 1999;169:2–12.