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Kennedy病散发病例1例报告

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出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2009年第2期248-249,共2页 Journal of Apoplexy and Nervous Diseases
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参考文献9

  • 1Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-link recessive trait[ J]. Neurology, 1968,18:671-680.
  • 2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
  • 3La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-link spinal and bulbar muscular atrophy [ J ]. Nature, 1991,352:77-79.
  • 4La Spada AR, Roling DB, Harding, et al. Hausmanowa-Petmsewicz Iet al. Meiotic Stability and genotype-penotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy [ J ]. Nat Genet, 1992,2:301-304.
  • 5Maclean HE, Choi WT, Rekaris G, et al. Abnomal androgen receptor binding affinity in subjects with Kennedy disease ( spinal and bulbar muscular atrophy) [ J ]. J Clin Endocrinol Metab, 1995,80 : 508-516.
  • 6Dejager S, Bry-Gauillard H, Bruckert E, et al. A comprehensive endocrine description of Kennedy, s disease revealing androgen insensitivity linked to CAG repeat length[J]. J Clin Endocrinol Metab,2002,87: 3893-3901.
  • 7Warner CL, Servidei S, Lange D J, et al. X-linked spinal muscular atrophy ( Kennedy, s syndrome ). A kindred with Hypobetalipoproteine- mia[ J]. Arch Neural, 1990,47 : 111"7-1120.
  • 8Adachi H, Kume A, Li M, et al. Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death[J]. Hum Mol Genet ,2001,10 : 1039-1048.
  • 9Sopher BL, Thomas PS. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronpathy and implicate VEGF 164 in the motor neuron degeneration [ J ]. Neuron,2004,41:687-699.

二级参考文献20

  • 1张社卿,乔德丽,蒋德科,郑惠民,丁素菊,余龙.遗传性运动感觉神经病1家系[J].罕少疾病杂志,2005,12(3):58-59. 被引量:2
  • 2刘秀丽,袁栋才,相毅.Kennedy病一例报告[J].中华神经科杂志,2005,38(11):716-716. 被引量:8
  • 3Kennedy WR,Alter M,Sung JH.Progressive proximal spinal and bulbar muscular atrophy of late onset.A sex-linked recessive trait.Neurology,1968,18:671-680.
  • 4Meriggioli MN,Rowin J,Sanders DB.Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.Muscle Nerve,1999,22:1693-1697.
  • 5Guidetti D,Vescovini E,Motti L,et al.X-linked bulbar and spinal muscular atrophy,or Kennedy disease:clinical,neurophysiological,neuropathological,neuropsychological and molecular study of a large family.J Neurol Sci,1996,135:140-148.
  • 6Fischbeck KH.Kennedy disease.J Inherit Metab Dis,1997,20:152-158.
  • 7Udd B,Juvonen V,Hakamies L,et al.High prevalence of Kennedy's disease in Western Finland--is the syndrome under-diagnosed? Acta Neurol Scand,1998,98:128-133.
  • 8Guidetti D,Sabadini R,Ferlini A,et al.Epidemiological survey of X-linked bulbar and spinal muscular atrophy,or Kennedy disease,in the province of Reggio Emilia,Italy.Eur J Epidemiol,2001,17,6:587-591.
  • 9La Spada AR,Wilson EM,Lubahn DB,et al.Androgen receptor gene mutation in X-linked spinal and bulbar muscular atrophy.Nature,1991,352:77-79.
  • 10Parboosingh JS,Figlewicz DA,Krizus A,et al.Spinobulbar muscular atrophy can mimic ALS:the importance of genetic testing in male patients with atypical ALS.Neurology,1997,49:568-572.

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