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脊髓延髓肌肉萎缩症一家系报告 被引量:1

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出处 《第三军医大学学报》 CAS CSCD 北大核心 2007年第13期1357-1358,共2页 Journal of Third Military Medical University
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参考文献4

  • 1Maclean H E,Gonzales M,Greenland K J,et al.Age-dependent differences in androgen binding affinity in a family with spinal and bulbar muscular atrophy[J].Neurol Res,2005,27(5):548-551.
  • 2Yapijakis C,Kapaki E,Boussiou M,et al.Prenatal diagnosis of X-linked spinal and bulbar muscular atrophy in a Greek family[J].Prenat Diagn,1996,16(3):262-265.
  • 3Echaniz-Laguna A,Rousso E,Anheim M,et al.A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy[J].Neurology,2005,64(8):1458-1460.
  • 4Tomik B,Pichor A,Majka J.A study of five men with rare phenotype of spinal bulbar muscular atrophy (SBMA) from one family[J].European-Journal-of-Neurology,2003,10(Supplement 1):17-18.

同被引文献15

  • 1张社卿,丁素菊,郑惠民,蒋德科,李林国,余龙.Kennedy病一家系的临床和分子遗传学[J].中华神经科杂志,2006,39(11):753-757. 被引量:34
  • 2Kennedy WR,Alter M,Sung JH.Progressive proximal spinal and bulbar muscular atrophy of late onset.A sex-linked recessive trait[J].Neurology,1968,18(7):671-680.
  • 3Echaniz-Laguna A,Rousso E,Anheim M,et al.A family with earlyonset and rapidly progressive X-linked spinal and bulbar muscular atrophy[J].Neurology,2005,64(8):1458-1460.
  • 4La Spada AR,Wilson EM,Lubahn DB,et al.Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy[J].Nature,1991,352(1):77-79.
  • 5Fischbeck KH.Kennedy disease[J].J Inherited Metab Dis,1997,20(2):152-158.
  • 6Sperfeld AD,Karitzky J,Brummer D,et al.X-linked bulbospinal neuropathy:Kennedy disease[J].Arch Neurol,2002,59(12):1921-1926.
  • 7Katsuno M,Adachi H,Tanaka F,et al.Spinal and bulbar muscular atrophy:ligand-dependent pathogenesis and therapeutic perspectives[J].J Mol Med,2004,82(5):298-307.
  • 8Rhodes LE,Freeman BK,Auh S,et al.Clinical features of spinal and bulbar muscular atrophy[J].Brain,2009,132(Pt 12):3242-3251.
  • 9Sobue G,Doyu M,Kachi T,et al.Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy[J].J Neurol Sci,1993,117(1):74-78.
  • 10Beitel LK,Scanlon T,Gottlieb B,et al.Progress in spinal bulbar muscular at rophy research:insight s into neuronal dysfunction caused by the polyglutamine expanded androgen receptor[J].Neurotox Res,2005,7(3):219-230.

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