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家族性肌萎缩侧索硬化致病基因的研究进展 被引量：5

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摘要 肌萎缩侧索硬化（amyotrophic lateral sclerosis，ALS）是一种选择性侵犯上、下运动神经元的进行性致死性神经系统变性疾病，患者多在出现临床症状后3～10年内因呼吸功能衰竭死亡。ALS按其起病方式可分为散发性ALS（sporadic ALS，SALS）和家族性ALS（familial ALS，FALS）．前者占90％～95％，后者占5％～10％。
作者 陈文族 赵振华 吴志英
机构地区 福建医科大学附属第一医院神经内科
出处 《中华神经科杂志》 CAS CSCD 北大核心 2007年第6期425-428,共4页 Chinese Journal of Neurology
基金 福建医科大学教授学术发展基金(JS6037) 福建省科技重大项目基金(2002Y001)
关键词 家族性肌萎缩侧索硬化 致病基因 神经系统变性疾病 下运动神经元 呼吸功能衰竭 ALS 临床症状 起病方式
分类号 R744 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献30

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  • 3张莉红,李晓光,崔丽英.肌萎缩侧索硬化与超氧化物歧化酶1基因突变研究进展[J].中华神经科杂志,2007,40(1):65-67. 被引量：14
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二级参考文献40

  • 1史树贵,李露斯,陈康宁,刘昕.一个肌萎缩侧索硬化家系的SOD1基因突变[J].中华医学遗传学杂志,2004,21(2):149-152. 被引量：19
  • 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
  • 3Williamson TL,Bruijn LI,Zhu Q,et al.Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant.Proc Natl Acad Sci USA,1998,95 (16):9631-9636.
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共引文献15

同被引文献62

  • 1史树贵,李露斯,陈康宁,刘昕.一个肌萎缩侧索硬化家系的SOD1基因突变[J].中华医学遗传学杂志,2004,21(2):149-152. 被引量：19
  • 2刘明生,崔丽英,汤晓芙,李本红,杜华.运动神经元病162例的节段性运动神经传导测定分析[J].中华神经科杂志,2005,38(11):694-696. 被引量：13
  • 3Brooks 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.
  • 4Xu Y, Zheng J, Zhang S, et al. Needle electromyography of the rectus abdominis in patients with amyotrophic lateral sclerosis. Muscle Nerve, 2007, 35 : 383-385.
  • 5Bhatt JM, Gordon PH. Current clinical trials in amyotrophic lateral sclerosis. Expert Opin Investig Drugs, 2007, 16 : 1197- 1207.
  • 6Traynor BJ, Bruijn L, Conwit R, et al. Neuroprotective agents for clinical trials in ALS: a systematic assessment. Neurology, 2006, 67 : 20-27.
  • 7Bryson HM, Fulton B, Benfield P. Riluzole. A review of its pharmacodynamic and pharmacokinetic properties and therapeutic potential in amyotrophic lateral sclerosis. Drugs, 1996, 52 : 549 -563.
  • 8Miller RG, Mitchell JD, Lyon M, et al. Riluzole for amyotrophic lateral sclerosis ( ALS )/motor neuron disease (MND). Cochrane Database Syst Rev, 2007 : CD001447.
  • 9Zhang Y, Zhang H, Fu Y, et al. VEGF C2578A polymorphism does not contribute to amyotrophic lateral sclerosis susceptibility in sporadic Chinese patients. Amyotroph Lateral Scler, 2006, 7: 119-122.
  • 10Chen D, Shen L, Wang L, et al. Association of polymorphisms in vascular endothelial growth factor gene with the age of onset of amyotrophic lateral sclerosis. Amyotroph Lateral Scler, 2007, 8 : 144-149.

引证文献5

二级引证文献15

中华神经科杂志
2007年 第6期

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