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亨廷顿氏病发病及基因诊断 被引量:4

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摘要 亨廷顿氏病(Huntingtons,disease,HD)是神经系统一种严重的常染色体显性遗传病[1]。该病的遗传学基因是在IT15基因的开放阅读框架的5’端有一个多态的(CAG)n三核苷酸重复序列异常扩增,在正常人群中其拷贝数为11~34,而HD...
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 1998年第2期96-98,共3页 Chinese Journal of Nervous and Mental Diseases
基金 江苏省卫生厅资助课题
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参考文献1

  • 1毛跃华,高技术通讯,1995年,5卷,1页

同被引文献23

  • 1中华医学会神经病学分会帕金森病及运动障碍学组.亨廷顿病的诊断与治疗指南[J].中华神经科杂志,2011,44:638-641.
  • 2Montoya A, Price BH, Menear M, et al. Brain imaging and cognitive dysfunctions in Huntington' s disease [ J ]. J Psychiatry Neurosci, 2006,31: 21-29.
  • 3Masealchi M, Lolli F, Delia Nave R, et al. Huntington disease: volumetric, diffusion-weighted, and magnetization transfer MR imaging of brain [ J ]. Radiology, 2004,232 : 867-873.
  • 4Van Camp N,Blockx I,Cam6n L,et al. A complementary diffusion tensor imaging (DTI)-histological study in a model of Huntington's disease[J]. Neurobiol Aging, 2012,33: 945-959.
  • 5Singh S, Mehta H ,Fekete R. Altered fractional aasotropy n ear!. Huntington's disease [ J ]. Case Rep Neurol, 2013,5 : 26-30.
  • 6Douaud G, Behrens TE, Poupon C, et al. In vivo evidence for the selective subcortical degeneration in Huntington' s disease [ J ]. Neuroimage,2009,46 : 958-966.
  • 7Hailer S, Badoud S, Nguyen D, et al. Differentiation between Parkinson disease and other forms of Parkinsonism using support vector machine analysis of susceptibility-weighted imaging (SWI) : initial results[ J]. Eur Radiol, 2013,23 : 12-19.
  • 8Stankiewiez JM, Brass SD. Role of iron. in neurotoxicity: a cause for concern in the elderly? [ J ]. Curr Opin Clin Nutr Metab Care, 2009,12 : 22 -29.
  • 9Brass SD, Chen NK, Mulkern RV, et al. Magnetic resonance imaging of iron deposition in neurological disorders [ J ]. Top Magn Reson Imaging,2006,17:31-40.
  • 10Simmons DA, Casale M, Alcon B, et al. Ferritin accumulation in dystrophic microglia is an early event in the development of Huntington's disease [ J]. Glia,2007,55 : 1074-1084.

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