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多巴反应性肌张力障碍15例临床分析 被引量:1

Clinical analysis of 15 cases of Dopa-responsive dystonia
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出处 《中南大学学报(医学版)》 CAS CSCD 北大核心 2004年第6期725-726,共2页 Journal of Central South University :Medical Science
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参考文献9

  • 1Schiller A, Wevers Ra, Steenbergen GC, et al. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency [ J ]. Neurology,2004,63 ( 8 ): 1524-1526. 被引量:1
  • 2Segawa M, Hosaka A, Miragawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation [ J ]. Adv Neurol, 1976, 14:215-233. 被引量:1
  • 3Nygaard TG. Dopa-responsive dystonia: long-term treatment response and prognosis [ J ]. Neurology, 1991,41 ( 2 Pt 1 ): 174 - 181. 被引量:1
  • 4Duan J, Wainwright M, Comeron J, et al. Synonymous mutations in the human dopamine receptor D2 ( DRD2 ) affect mRNA stability and synthesis of the receptor [ J ]. Hum Mol Gene, 2003,12 ( 3 ):205-216. 被引量:1
  • 5Nygaard TG, Wilhelmsen KC, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia(DRD) to chromosome 14q[ J]. Nature Genet, 1993,5 (4) :386-391. 被引量:1
  • 6Nardocci N, Zorzi G, Blau N, et al. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency [J]. Neurology, 2003,60(2):335-337. 被引量:1
  • 7Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydroxyIase Ⅰ gene mutations in hereditary progressive dystonia and doparesponsive dystonia[ J]. Ann Nourol, 1996,39(5) :609-617. 被引量:1
  • 8Slawek J,Friedman A, Bogucki A, et al. Dopa-responsive dystonia (Segawa variant): clinical analysis of 7 cases with delayed diagnosis [ J ]. Neurol Neurochir Pol, 2003,37 ( suppl 5 ): 117-26. 被引量:1
  • 9Rajput AH, Gibb WR,Zhong XH,et al. Dopa-responsive dystonia:Pathological and biochemical observations in a case[ J]. Ann Neurol, 1994,35(4) :396-402. 被引量:1

同被引文献19

  • 1王进,王才,杨守文,郭丽艳.多巴胺反应性肌张力障碍2例报告[J].中国实用乡村医生杂志,2005,12(5):69-70. 被引量:1
  • 2Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation[J ]. Adv Neurol, 1976,14 ( 1 ) :215-233. 被引量:1
  • 3Nygaard TG. Dopa-responsive dystonia :long-term treatment response and prognosis[ Jl. Neurology,1991,41 (2 Pt 1 ) :174-181. 被引量:1
  • 4Rajput AH, Gibb WR,Zhong XH,et al. Dopa-responsive dystonia: pathological and biochemical observations in a case [ J ]. Ann Neural, 1994,35 (4) :396-402. 被引量:1
  • 5Schiller A, Wevers Ra, Steenbergen GC, et al. Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase defi- ciency[ J]. Neurology,2004,63 ( 8 ) : 1524-1526. 被引量:1
  • 6Furukawa Y, Shimadzu M, Rajput AH, et al. GTP-cyclohydrelase I gene mutations in hereditary progressive amd dopa-responsive dystonia [ J 1- Ann Neurol, 1996,39 ( 1 ) :609-617. 被引量:1
  • 7Duan J, Wa/nwright MS, Comeron JM, et al. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor [ J ]. Hum Mol Genet, 2003,12 ( 3 ) : 205-216. 被引量:1
  • 8Nardocci N,Zorzi G, Blau N et al. Neonatal dopa-responsive extra- pyramidal syndrome in twins with recessive GTPCH deficiency [ J ]. Neurology,2003,60 ( 2 ) : 335-337. 被引量:1
  • 9Knappskog PM, Flatmark T, Mallet J, et al. Recessively inherited L-dopa-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene [ J ]. Hum Mol Gene, 1995,4 (7) : 1209-1212. 被引量:1
  • 10Furukawa Y, Graf WD, Wong H, et al. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations [ J ]. Neurology,2001,56 ( 2 ) : 260-263. 被引量:1

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