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发作性运动障碍15例临床分析 被引量:1

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作者 秦绍清
出处 《中国民康医学》 2006年第15期689-689,共1页 Medical Journal of Chinese People’s Health
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  • 1Vela-Desojo L,Vaamonde-Gamo J,Obeso-Insausti JA.Paroxysmal movement disorders[J].Rev Neurol,2000,31:71-79.
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同被引文献24

  • 1Spacey SD, Valente EM, Wali GM, et al. Genetic and clinical heterogeneity in paroxysmal kinesigenie dyskinesia: evidence for a third EKD gene[J]. Mov Disord, 2002,17(4) :717-725.
  • 2Bruno MK, Lee HY, Auburger GW, et al. Genotype-pheno- type correlation of paroxysmal nonkinesigenic dyskinesia [J]. Neurology, 2007,68 (21 ) : 1782-1789.
  • 3Bhatia KP. Paroxysmal dyskinesias [J]. Mov Disord, 2011,26 (6):1157-1165.
  • 4Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evalua- tion of idiopathic paroxysmal kinesigenic dyskinesia: new diag- nostic criteria[ J ]. Neurology, 2004,63 (12) : 2280-2287.
  • 5Can L, Huang XJ, Zheng L, et al. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyski- nesias and c.649dupC as a mutation hot-spot [J]. Parkinsonism Relat Disord, 2012, 18(5) :704-706.
  • 6Ghezzi D, Viscomi C, Ferlini A, et ah Paroxysmal non-kinesi- genic dyskinesia is caused by mutations of the MR-I mitochon- drial targeting sequence [J].Hum Mol Genet, 2009, 18 (6) : 1058-1064.
  • 7Chen WJ, Lin Y, Xiong ZQ, et ah Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigen- ic dyskinesia[J]. Nat Genet, 2011,43(12) : 1252-1255.
  • 8Meneret A, Grabli D, Depienne C, et ah PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the Europe- an population[J]. Neurology, 2012,79(2) :170-174.
  • 9Suls A, Dedeken P, Goffin K, et al. Paroxysmal exercise-in- duced dyskinesia and epilepsy is due to mutations in SLC2Al, encoding the glucose transporter GLUT1 [J]. Brain, 2008, 131 (Pt 7) : 1831-1844.
  • 10Hempelmann A, Kumar S, Muralitharan S, et al. Myofibrillo- genesis regulator 1 gene (MR-I) mutation in an Omani family with paroxysmal nonkinesigenie dyskinesia [J]. Neurosci Lett, 2006,402(1-2) : 118-120.

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