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肌萎缩侧索硬化与超氧化物歧化酶1基因突变研究进展 被引量:14

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摘要 肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS)是由上下运动神经元进行性退变引起的一种致死性瘫痪性疾病,散发性ALS(SALS)占绝大多数,家族性ALS(FALS)占5%~10%,两者在临床表现上没有显著的区别。
出处 《中华神经科杂志》 CAS CSCD 北大核心 2007年第1期65-67,共3页 Chinese Journal of Neurology
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参考文献20

  • 1Majoor-Krakauer D,Willems PJ,Hofman A,et al.Genetic epidemiology of amyotrophic lateral sclerosis.Clin Genet,2003,63:83-101. 被引量:1
  • 2刘小民,唐北沙,赵国华.家族性肌萎缩性侧索硬化的分子遗传学研究[J].中华神经科杂志,2004,37(3):264-266. 被引量:2
  • 3Rosen DR,Siddique T,Patterson D,et al.Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.Nature,1993,362:59-62. 被引量:1
  • 4Andersen PM.Genetic of sporadic ALS.Amyotroph Lateral Scler Other Motor Neuron Disord,2001,2 Suppl 1:S37-S41. 被引量:1
  • 5Cudkowicz ME,Mckenna-Yasek D,Sapp PE,et al.Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis.Ann Neurol,1997,41:210-221. 被引量:1
  • 6Andersen PM,Nilsson P,Keranen ML,et al.Phenotypic heterogeneity in motor neuron disease patients with CuZnsuperoxide dismutations in Scandinavia.Brain,1997,120:1723-1737. 被引量:1
  • 7Orrell RW.Amyotrophic lateral sclerosis:copper/zinc superoxide dismutase (SOD1) gene mutations.Neuromuscul Disord,2000,10:63-68. 被引量:1
  • 8Battistini S,Giannini F,Greco G,et al.SOD1 mutations in amyotrophic lateral sclerosis.Results from a multicenter Italian study.J Neurol,2005,252:782-788. 被引量:1
  • 9Brooks BR,Miller RG,Swash M,et al.El Escorial revisited:revised criteria for the diagnosis of amyotrophic lateral sclerosis.Amyotroph Lateral Scler Other Motor Neuron Disord,2000,1:293-299. 被引量:1
  • 10Andersen PM,Forsgren L,Binzer M,et al.Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation.A clinical and genealogical study of 36 patients.Brain,1996 (Pt 4):1153-1172. 被引量:1

二级参考文献33

  • 1Orrell RW, Habgood JJ, Gardiner I, 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. Neurolog 被引量:1
  • 2Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature, 1993, 362∶59-62. 被引量:1
  • 3Guegan C, Przedborski J. Programmed cell death in amyotrophic lateral sclerosis. J Clin Invest, 2003, 111∶153-161. 被引量:1
  • 4Yuan J, Yankner BA. Apoptosis in the nervous system. Nature, 2000, 407∶802-809. 被引量:1
  • 5Johnson WG. Late-onset neurodegenerative diseases-the role of protein insolubility. J Anat, 2000, 196∶609-616. 被引量:1
  • 6Jacobson J, Jonsson PA, Andersen PM, et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without CuZn superoxide dismutase mutations. Brain, 2001,124∶1461-1466. 被引量:1
  • 7Ohi T, Saita K, Takechi S, et al. Clinical features and neuropathological fingings of familial amyotrophic lateral sclerosis with a His46Arg mutation in Cu/Zn superoxide dismutase. J Neurol Sci, 2002, 197∶73-78. 被引量:1
  • 8Kim NH, Kim HJ, Kim M, et al. A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis. J Neurol Sci, 2003, 206∶65-69. 被引量:1
  • 9Rowland LP,Shneider NA. Amyotrophic lateral sclerosis. N Engl J Med, 2001,344∶1688-1700. 被引量:1
  • 10Hand CK, Mayeux-Portas V, Khoris J, et al. Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol, 2001, 49∶267-271. 被引量:1

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