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中央轴空病3例报告 被引量:4

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出处 《临床神经病学杂志》 CAS 2004年第3期209-209,共1页 Journal of Clinical Neurology
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同被引文献44

  • 1吴士文,马维娅,于生元,沈定国.中央轴空病患者畸形矫正术中的恶性高热风险[J].中国康复理论与实践,2006,12(5):427-428. 被引量:5
  • 2吴士文,马维娅,于生元,沈定国,IchizO Nishino.28例中央轴空病的临床病理分析[J].中华神经医学杂志,2006,5(6):597-600. 被引量:7
  • 3沈定国.神经病学:肌肉疾病[M].北京:人民军医出版社,2007:65-79.
  • 4Quinlivan RM,Muller CR,Davis M,et al.Central core disease:clinical,pathological,and genetic features.Arch Dis Child,2003,88:1051-1055.
  • 5Wu S,Carlos AIM,Christine M,et al.Central core disease is due to RyR1 mutations in more than 90% of patients.Brain,2006[Epub ahead of print].
  • 6Romero NB,Monnier N,Viollet L,et al.Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.Brain,2003,126 (Pt 11):2341-2349.
  • 7De Cauwer H,Heytens L,Martin JJ.Workshop report of the 89th ENMC International Workshop:Central Core Disease,19th-20th January 2001,Hilversum,The Netherlands.Neuromuscul Disord,2002,12:588-595.
  • 8Ferreiro A,Monnier N,Romero NB,et al.A recessive form of central core disease,transiently presenting as multi-minicore disease,is associated with a homozygous mutation in the ryanodine receptor type 1 gene.Ann Neurol,2002,51:750-759.
  • 9Sewry CA,Muller C,Davis M,et al.The spectrum of pathology in central core disease.Neuromuscul Disord,2002,12:930-938.
  • 10Scacheri PC,Hoffman EP,Fratkin JD,et al.A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.Neurology,2000,55:1689-1696.

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