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轻型巨轴索神经病一例 被引量:2

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摘要 巨轴索神经病(giant axonal neuropathy,GAN)是一种累及周闹神经和中枢神经系统的遗传性中间丝蛋白病,该病于1972年首次报道。目前已明确其致病基因为gigaxonin。经典型的患者常在7岁前发病,除表现为进行性的运动感觉性周用神经病外,
出处 《中华神经科杂志》 CAS CSCD 北大核心 2011年第8期583-584,共2页 Chinese Journal of Neurology
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  • 1Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeietal BTB/kelch repeat family, ismutated in gianl axonal neuropathy. Nat Genet, 2000. 26:370-374.
  • 2Tazir M,Nouioua S,Magy L, et al. Phenotypic variability in giant axonal neuropathy. Neuromuscul Disord ,2009 ,19 :270-274.
  • 3徐敏,刘璐,耿志伟,贾建平.巨轴索神经病一例临床、病理与分子遗传学[J].中华神经科杂志,2008,41(7):462-464. 被引量:3
  • 4Alien E,Ding J. Wang W,et al. Gigaxonin-controlled degradation of MAPIB light chain is critical to neuronal survival. Nature, 2005,438:224-228.
  • 5Koop O, Schinuacher A, Nelis E, et al. Genotype-phenotype tmalysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord ,2007,17:624-630,.
  • 6Bruno C, Bertini E, Federico A. et al. Clinical and molecular findings in patients with giant axon'.d nem'opathy (GAN). Neurology, 2004,62 : 13 - 16.

二级参考文献12

  • 1Bomont P, Cavalier L, Blondeau F, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet, 2000,26: 370-374.
  • 2Lampl Y, Eshel Y, Ben-David E, et al. Giant axonal neuropathy with predominant central nervous system manifestations. Dev Med Child Neurol, 1992, 34 : 164-169.
  • 3Malandrini A, Dotti MT, Battisti C, et al. Giant axonal neuropathy with subclinical involvement of the central nervous system: case report. J Neurol Sci, 1998, 158: 232-235.
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  • 5Mohri I, Taniike M, Yoshikawa H, et al. A ease of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. Brain Dev, 1998, 20: 594-597.
  • 6Donaghy M, King RH, Thomas PK, et al. Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. J Neurocytol, 1988, 17: 197-208.
  • 7Tazir M, Vallat JM, Bomont P, et al. Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord, 2002, 12: 849-852.
  • 8Koop O, Sehimaeher A, Nelis E, et al. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord, 2007, 17: 624-630.
  • 9Schochet SS Jr, Chesson AL Jr. Giant axonal neuropathy: possibly secondary to vitamin b12 malabsorption. Acta Neuropathol, 1977, 40 : 79-83.
  • 10Davenport JG, Farrell DF, Sumi M. "Giant axonal neuropathy" caused by industrial chemicals: neurofilamentous axonal masses in man. Neurology, 1976, 26: 919-923.

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