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亨廷顿舞蹈病一家系四例 被引量:4

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2006年第4期486-486,共1页 Chinese Journal of Medical Genetics
基金 江苏省博士后基金 国家自然科学基金(30370506)
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  • 1张宝荣,殷鑫浈,夏昆,包颖颖,胡正茂,田均,刘志蓉,夏家辉.舞蹈病家系临床、影像学特征及基因突变分析[J].中华神经科杂志,2005,38(11):686-689. 被引量:7
  • 2Langbehn DR, Hayden MR peat length and the age of Paulsen JS, et al. CAG-re- onset in Huntington disease (HD) : a review and validation study of statistical approaches[J]. Am J Med Genet B Neuropsychiatr Genet,2010, 153B(2) :397. 被引量:1
  • 3Huntington's Disease Collaborative Research Group. A novel gent containing a trinucleotide repeat that is expanded and unstable on Huntington' s disease chromosomes [ J ]. Cell, 1993,72(6) :971. 被引量:1
  • 4Yu S, Fimmel A, Fung D, et al. Polymorphisms in the CAG repeat: a source of error in Huntington disease DNA testing[ JJ. Clin Genet,2000, 58(6) :469. 被引量:1
  • 5Semaka A, Collins JA, Hayden MR. Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles) [ J]. Am J Med Genet B Neuropsychiatr Genet,2010,153B( 1 ) :314. 被引量:1
  • 6Swami M, Hendricks AE, Gillis T,et al. Somatic expansion of the Huntington' s disease CAG repeat in the brain is associated with an earlier age of disease onset [ J ]. I-Ium Mol Genet,2009,18(16) :3 039. 被引量:1
  • 7Perutz MF. Glutamine repeats and neurodegenerative diseases:Molecular aspects[ J]. Trend Biol Sci, 1999,24 : 58. 被引量:1
  • 8Zainelli GM, Ross CA, Troncoso JC, et al. Transglutaminase cross links in intranuclear inclusions in Huntington disease[ J]. J Neuropathol Exp Neurol, 2003,62: 14. 被引量:1
  • 9Zuccato C, Ciammola A, Rigamonti D, et al. Loss of Huntingtin mediated BDNF gene transcription in Huntington's disease[ J]. Science,2001,293 : 493. 被引量:1
  • 10Qin ZH, Wang Y, Kegel KB, et al. Autophagy regulates processing of amino terminal htuntingtin fragments [ J ]. Human Mol Gen, 2003,12 : 3231. 被引量:1

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