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Segawa病一例报道

One Case Report of Segawa Disease
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出处 《上海第二医科大学学报》 CSCD 北大核心 2005年第10期1063-1063,共1页 Acta Universitatis Medicinalis Secondae Shanghai
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参考文献5

  • 1Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation[J]. Adv Neruol, 1976, 14:215. 被引量:1
  • 2Nygaard TG, Wilhelmsen KG, Risch NJ, et al. Linkage mapping of dopa-responsive dystonia(DRD) to chromosome 14q[J]. Nat Genet, 1993, 5(4):386-391. 被引量:1
  • 3万新华,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
  • 4Furukawa Y. Genetics and biochemistry of dopa-responsive dystonia:significance of striatal tyrosine hydroxylase protein loss[J]. Adv Neurol, 2003, 91:401. 被引量:1
  • 5Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation[J]. Brain Dev, 2000, 22Suppl: S65-S80. 被引量:1

二级参考文献17

  • 1Nygaard TG,Marsden CD,Duvoisin RC. Dopa-responsive dystonia[J]. Adv Neurol,1988,55: 377. 被引量:1
  • 2Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation[J]. Brain Dev,2000,22 (Suppl 1): S65 . 被引量:1
  • 3Destee A,Brique S,Sablonniere B. Genetic dystonia[J]. Presse Med,1999,28: 298. 被引量:1
  • 4Furukawa Y,Lang AE,Trugman JM,et al. Gender-related penetrance and de novo GTP-cyclohydrolase 1 gene mutations in dopa-responsive dystonia[J]. Neurology,1998,50:1015. 被引量:1
  • 5Fink M. Clinical and genetic analysis of progressive dystonia with diurnal variation[J]. Arch Neurol,1991,48: 908. 被引量:1
  • 6Furukawa Y. Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss[J]. Adv Neurol,2003,91: 401. 被引量:1
  • 7Rajput AH,Gibb WR. Dopa-responsive dystonia: Pathological and biochemical observation in a case[J]. Ann Neurol,1994,35: 396. 被引量:1
  • 8Ichinose H,Suzuki T,Inagaki H,et al. Molecular genetics of dopa-responsive dystonia[J]. Biol Chem,1999,380: 1355. 被引量:1
  • 9Steinberger D,Topka H,Fischer D,et al. GCH1 mutation in a patient with adult-onset oromandibular dystonia[J]. Neurology,1999,52: 877.?A 被引量:1
  • 10Kong CK,Ko CH,Tong SF,et al. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness[J]. Neurology,2001,57:1121. 被引量:1

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