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遗传性痉挛性截瘫的病理、遗传学、发病机制和临床的研究进展 被引量:12

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出处 《临床神经病学杂志》 CAS 北大核心 2006年第1期70-72,共3页 Journal of Clinical Neurology
基金 国家自然科学基金(30300199) 国家863计划项目(2004AA227040)
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参考文献27

  • 1McDermott C J, White K, Bushby K, et al. J Neurol Neurosurg Psychiatry, 2000, 69 : 150. 被引量:1
  • 2Fink JK. Exp Neurol, 2003, 184(Suppl) : S106. 被引量:1
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二级参考文献14

  • 1陈嵘 黄帆 王国相.遗传性痉挛性截瘫[A].见:梁秀龄主编.神经系统遗传性疾病[C].北京:人民军医出版社,2001.109~12. 被引量:1
  • 2Mc Dermott CJ, White K, Bushby K, et al. Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry, 2000, 69 : 150-160. 被引量:1
  • 3Patel H, Cross H, Proukakis C, et al. SPG20 is mutated in Troyer syndrome, a hereditary spastic paraplegia. Nat Genet,2002, 31 : 347-348. 被引量:1
  • 4Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet, 1999, 23: 296-303. 被引量:1
  • 5Harding AE. Classification of the hereditary ataxia and paraplegias. Lancet, 1983, 1 : 1151-1155. 被引量:1
  • 6Hentati A, Deng HX, Zhai H, et al. Novel mutation in spastin gene and absence of correlation with age at onset of symptoms.Neurology, 2000, 55 : 1388-1390. 被引量:1
  • 7Fink JK. Hereditary spastic paraplegia: the pace quickens. Ann Neurol, 2002, 51 : 669-672. 被引量:1
  • 8Reid A, Kloos M, Ashley-koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet, 2002, 71 : 1189-1194. 被引量:1
  • 9Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutation in autosomal dominant spastic paraplegia. Hum Mol Genet, 2000,9: 637-644. 被引量:1
  • 10Meijer IA, Hand CK, Cossette P, et al. Spectrum of SPG4 mutation in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol, 2002, 59 : 281-286. 被引量:1

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