1. Rowland LP, Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med. 2001. 344:1688–1700.
Article
2. Mulder DW, Kurland LT, Offord KP, Beard CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology. 1986. 36:511–517.
Article
3. Rosen DR, Siddique T, Patterson D, Figlewicz DA, 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.
Article
4. Gros-Louis F, Gaspar C, Rouleau GA. Genetics of familial and sporadic amyotrophic lateral sclerosis. Biochim Biophys Acta. 2006. 1762:956–972.
Article
5. Radunovic A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry. 1996. 61:565–572.
Article
6. Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene. Neurology. 1995. 45:1019–1020.
7. Pramatarova A, Goto J, Nanba E, Nakashima K, Takahashi K, Takagi A, et al. A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet. 1994. 3:2061–2062.
8. Zu JS, Deng HX, Lo TP, Mitsumoto H, Ahmed MS, Hung WY, et al. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. Neurogenetics. 1997. 1:65–71.
Article
9. Andersen PM, Nilsson P, Keranen ML, Forsgren L, Hagglund J, Karlsborg M, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain. 1997. 120:1723–1737.
Article
10. Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, et al. 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.
Article
11. Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, et al. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscul Disord. 1995. 5:353–357.
Article
12. Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol. 1997. 42:803–807.
Article
13. Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromuscul Disord. 1996. 6:361–366.
Article
14. Watanabe Y, Adachi Y, Nakashima K. Japanese familial amyotrophic lateral sclerosis family with a two-base deletion in the superoxide dismutase-1 gene. Neuropathology. 2001. 21:61–66.
Article
15. Kim NH, Kim HJ, Hong YH, Chun JU, Sung JJ, Kwon OY, et al. Korean familial amyotrophic lateral sclerosis family with a novel Gly10Val mutation in the SOD1 gene. J Korean Neurol Assoc. 2002. 20:379–384.
16. Wilbourn AJ. Clinical neurophysiology in the diagnosis of amyotrophic lateral sclerosis: the Lambert and the El Escorial criteria. J Neurol Sci. 1998. 160:S25–S29.
Article
17. 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. 37:676–679.
Article
18. Ceroni M, Malaspina A, Poloni TE, Alimonti D, Rognoni F, Habgood J, et al. Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation. Neurology. 1999. 53:1064–1071.
Article
19. Iwai K, Yamamoto M, Yoshihara T, Sobue G. Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation. J Neurol Neurosurg Psychiatry. 2002. 72:819–820.
Article
20. Hart PJ. Pathogenic superoxide dismutase structure, folding, aggregation and turnover. Curr Opin Chem Biol. 2006. 10:131–138.
Article