期刊文献+

脊髓小脑共济失调2例

下载PDF
导出
出处 《中国煤炭工业医学杂志》 2008年第11期1817-1818,共2页 Chinese Journal of Coal Industry Medicine
  • 相关文献

参考文献6

  • 1Schols L,Bauer P,Schmidt T,et al. Autosomal dominant cerebellar ataxias : Clinical features, genetics, and pathogenesis [J]. Lancet Neurology,2004,35291 - 304
  • 2Manto M. The wide spectrum of spinocerebellar ataxia[J]. Cerebellum,2005,4 (1) : 2 - 6
  • 3Scriver CR. The metablic and molecular bases of inherited disease[M]. 8th ed. New York: McGraw - Hill Companies, 2001:741 - 748
  • 4韩燕,郑惠民,丁素菊.遗传性脊髓小脑共济失调7型的临床与基础[J].中国临床神经科学,2002,10(4):413-416. 被引量:1
  • 5邬烈铭,高哲石,王善澄,金通观,陈美娟,汪栋祥,江三多.遗传性共济失调伴精神障碍的临床及遗传研究[J].上海精神医学,2001,13(2):73-76. 被引量:2
  • 6Koeppen AH. The pathogenesis of spinous cerebella ataxia[J]. Cerebellum,2005,4(1) :62 - 73

二级参考文献35

  • 1江三多,冯国鄞,吴晓东,林嗣萃,顾牛范,金通观,康伟民,高哲石,任大明,江开达.Alzheimer病与载脂蛋白E ε_4等位基因的关联分析[J].中华精神科杂志,1996,29(1):15-18. 被引量:39
  • 2唐北沙,刘春宇,夏家辉,潘乾,龙志高.遗传性脊髓小脑型共济失调患者 SCA_1 基因突变检测分析[J].中华神经科杂志,1997,30(2):110-113. 被引量:8
  • 3Harding AE, Deufel T. Clinical features and classification of inherited ataxias. Adv Neurol, 1993,61:1-14
  • 4Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: A clinical and genetic study of eight families. Brain, 1994; 117: 445-460
  • 5Jample RS, Okazaki H, Bernstein H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol,1996,66:247-259
  • 6De Jone PTVM, De Jone JGY, De Jone-Ten Doeschate JMM, et al.Olivopontocerebellar atrophy with visual disturbances. An ophthalmologic investigation into four generations. Ophthalmology, 1980,87:793-804
  • 7Neetens A, Martin J J, Libert J, et al. Autosomal dominant cone dystrophycerebellar atrophy. Neuro-ophthalmology, 1990,10:261-275
  • 8Toshiaki Abe, Takehide Tsuda, Madoka Yoshida, et al. Madoka Yoshida, et al. Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families. Arch Ophthalmol, 2000,118:1415-1421
  • 9Duinkerke-Eerola KU, Cruysberg JRM, Deutman AF. Atrophic maculopathy associated with hereditary ataxia. Am J Ophthalmol, 1980,90:597-603
  • 10Jobsis GJ, Weber JW, Barth PG, et al. Autosomal dominant eerebellar ataxia with retinal degeneration(ADCA Ⅱ):clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.l.J Neurol Neurosurg Psychiat, 1997,62:367-371

共引文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部