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成年起病的多巴反应性肌张力障碍4例分析 被引量:5

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出处 《神经损伤与功能重建》 2008年第4期285-286,共2页 Neural Injury and Functional Reconstruction
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  • 1SCHILLER A, WEVERS RA, STEENBERGEN GC, et al. Long-term Course of L-dopa-Responsive Dystonia Caused by Tyrosine Hydroxylase Deficiency [J]. Neurology ( S0028 - 3878) ,2004,63(8) :1524- 1526.
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  • 4HWU WL, LU MY, HWA KY, et al. Molecular Chaperones Affect GTP Cyclohydrolase 1 Mutations in dopa-responsive Dystonia[J]. Ann Neurol(S0364 - 5134), 2004,55 (6) : 875 - 878.
  • 5SCHILLER A, WEVERS RA, STEENBERGEN GC, et al. Long- term Course of L-dopa-responsive Dystonia Caused by Tyrosine Hydroxylase Deficiency [J]. Neurology ( S0028 - 3878), 2004, 63 (8) : 1524- 1526.
  • 6SEUNGKYOUNG Y, YOUNG J L, JIN-MAN K, et al. A Muline Model for Human Sepiapterin-Reductase Deficiency[J]. Am J Hum Genet(S0002- 9297) ,2006,78(4) :575-587.
  • 7谢卉,吴志英,王柠,李智文,林珉婷,慕容慎行.多巴反应性肌张力障碍临床分析及GCHⅠ基因突变的研究[J].中华儿科杂志,2006,44(7):492-495. 被引量:8
  • 8熊斌,戚晓昆,姜树军,钱海蓉.中青年起病的多巴反应性肌张力障碍[J].脑与神经疾病杂志,2006,14(3):225-226. 被引量:6
  • 9陈蕾,张本恕,安中平.多巴反应性肌张力障碍的临床特点[J].中国现代神经疾病杂志,2006,6(2):114-118. 被引量:4
  • 10万新华,汤晓芙,李力波.多巴反应性肌张力障碍的临床特点[J].临床神经病学杂志,2005,18(1):51-53. 被引量:20

二级参考文献60

  • 1周海燕,张本恕.多巴反应性肌张力障碍三磷酸鸟苷环化水解酶Ⅰ基因突变检测[J].中华神经科杂志,2005,38(1):42-45. 被引量:12
  • 2Tanaka H, Endo K, Tsuji S, et al. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann Neurol, 1995, 37:405-408.
  • 3Ichincse H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase 1 genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem, 1995,270:10062-10071.
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  • 5Furukawa, Y.,Graf,W. D.,Wong, H. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations Neurology 2001,56(2):260-263.
  • 6Torbjoern G, Nygaard MD, Marsden CD,et al. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology,1991,41:174.
  • 7[1]Ichinose H,Ohye T,Takahashi E,et al.Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase Ⅰ gene.Nat Genet,1994,8:236-242.
  • 8[2]Nygaard TG.Dopa-responsive dystonia.Delineation of the clinical syndrome and clues to pathogenesis.Adv Neurol,1993,60:577-585.
  • 9[3]Segawa M.Hereditary progressive dystonia with marked diurnal fluctuation.Brain Dev,2000,22 (Suppl 1):65-80.
  • 10[4]Bressman SB.Dystonia:phenotypes and genotypes.Rev Neurol,2003,159 (10 Pt 1):849-856.

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