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遗传性包涵体肌病 被引量:3

Hereditary inclusion myopathy
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出处 《中国现代神经疾病杂志》 CAS 2005年第6期409-411,共3页 Chinese Journal of Contemporary Neurology and Neurosurgery
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参考文献25

  • 1[1]Askanas V, Engel WK. New advances in inclusion-body myositis.Curr Opin Rheumatol, 1993, 5:732-741.
  • 2[2]Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003,60:1519-1523.
  • 3[3]Tomimitsu H, Shimizu J, Ishikawa K, et al. Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant.Neurology, 2004, 62:1607-1610.
  • 4[4]Kumamoto T, Ito T, Horinouchi H, et al. Increased lysosome-related proteins in the skeletal muscles of distal myopathy with rimmed vacuoles. Muscle Nerve, 2000, 23:1686-1693.
  • 5王朝霞,袁云,张巍,吕鹤,陈清棠.Nonaka肌病伴面部肌肉受累[J].中风与神经疾病杂志,2003,20(1):35-37. 被引量:12
  • 6焉传祝,李大年,吴金玲,刘淑萍,谭东,单培彦,徐广润.有镶边空泡的远端肌病九例临床和病理研究[J].中华神经科杂志,2003,36(2):138-141. 被引量:22
  • 7[7]Uyama E, Uchino M, Chateau D, et al. Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy. Neuromuscul Disord, 1998, 8:119-125.
  • 8[8]Minami N, Ikesoe K, Kuroda H, et al. Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy. NeuromusculDisord, 2001, 11:699-702.
  • 9[9]van der Sluijs BM, ter Laak HJ, Scheffer H, et al. Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry, 2004, 75:1499-1501.
  • 10[10]on Tell D, Bruder CE, Anderson LV, et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. Neurogenetics,2003, 4:173-177.

二级参考文献27

  • 1孙琦,张平.包涵体肌炎(附1例报告并文献复习)[J].临床神经病学杂志,1996,9(4):240-241. 被引量:7
  • 2[1]Grigs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol, 1995, 38(5):705.
  • 3[2]Oldfors A, Larsson N, Lindberg C, et al. Mitochondrial DNA deletions in inclusion body myositis. Brain, 1993, 116(2):325.
  • 4[3]Santorelli FM, Sceacco M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients. Ann Neurol, 1996, 39(6):789.
  • 5[4]Blume G, Pestronk A, Frank B, et al. Polymyositis with cytochrome oxidasc negative muscle fibres. Brain, 1997, 120(1):39.
  • 6[5]Di Blasi C, Mora M, Pareyson D, et al. Partial laminin a 2 chain deficiency in a patient with myopathy reesembling inclusion body myositis. Ann Neurol, 2000, 47(6):811.
  • 7[6]Cole AJ, Kuzniecky R, Karpati G, et al. Familial myopathy with changes resembling inclusion body nyositis and periventricular leucoencephalopathy. Brain, 1988, 111(5):1025.
  • 8[1]Griggs RC,Markesbery WR. Distal myopathies[A]. In:Engel AG,Franzini-Armstrong C. Myology[M]. Vol. 2.New York:McGraw-Hill,1994.1246-1257.
  • 9[2]Barohn RJ,Amato AA,Griggs RC. Overview of distal myopathies:from the clinical to the molecular[J]. Neuromuscul Disord,1998,8(5):309-316.
  • 10[3]Illa I. Distal myopathies[J]. J Neurol,2000,247(3):169-174.

共引文献48

同被引文献33

  • 1董明睿,毕鸿雁,郑日亮,姚生,孙伟平,刘兴洲,焉传祝,袁云.眼咽远端型肌病一家系的咽喉功能观察以及骨骼肌病理特点[J].中华神经科杂志,2006,39(8):516-519. 被引量:8
  • 2王朝霞,高云鹰,张英,卜定方,袁云.Nonaka肌病的GNE基因突变研究[J].中风与神经疾病杂志,2006,23(2):201-203. 被引量:7
  • 3Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003, 60: 1519-1523.
  • 4Eisenberg I, Avidan N, Potikha T, et al. The UDP-N- acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is mutated in recessive hereditary inclusion body myopathy. Nat Genet, 2001,29: 83-87.
  • 5Sparks S, Rakocevic G, Joe G, et al. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol, 2007, 7: 3.
  • 6Yums EJ, Smlha FJ. Inclusion body myositis. Lab Invest, 1971 , 25(3) : 240-248.
  • 7Carpenter S, Karpati G, Heller I, et al. Inclusion body myositis : a distinct variety of idiopathic inflammatory myopathy. Neurology, 1978, 28(1) : 8-17.
  • 8Askanas V, Engel WK. New advances in inclusion body myositis. Curr Opin Rheumatol, 1993, 5(6) : 732-741.
  • 9Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol, 1995, 38 (5) : 705-713.
  • 10Argov Z, Eisenberg I, Grabov Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 2003, 60(9) : 1519-1523.

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