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Emery—Dreifuss肌营养不良症 被引量:6

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作者 罗德儒
出处 《中华神经精神科杂志》 CSCD 1991年第6期330-331,I006,共3页
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  • 1许淑芬,林世和,江新梅.Emery-Dreifuss肌营养不良症的临床、病理特征及emerin蛋白、STA基因的表达(附1例报告)[J].临床神经病学杂志,2007,20(2):101-103. 被引量:2
  • 2Emery AE. Emery-Dreifuss muscular dystrophy -a 40 year retrospective. Neuromuscul Disord, 2000, 10: 228-232.
  • 3Raffaele Di Barletta M, Ricci E, Galluzzi G, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J HumGenet, 2000, 66: 1407-1412.
  • 4gastrow MS, Vlcek S, Wilson KL. Proteins that bind A-type lamins: integrating isolated clues. J Cell Sei, 2004, 117: 979- 987.
  • 5Gruenbaum Y, Wilson KL, Harel A, et al. Review: nuclear lamins-structural proteins with fundamental functions. J Struct Biol, 2000, 129:313-323.
  • 6Park YE, Hayashi YK, Goto K, et al. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscul Disord, 2009,19 : 29-36.
  • 7Arbustini E, Pilotto A, Repetto A. Autosomal dominant dilated cardiomyopathy with atrioventrieular block: a lamin A/C defectrelated disease. J Am Coll Cardiol, 2002, 39: 981-990.
  • 8Ellis JA. Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. Cell Mol Life Sci, 2006, 63: 2702-2709.
  • 9Bonne G, Levy N. LMNA mutations in atypical Werner's syndrome. Lancet, 2003, 362: 1585-1586.
  • 10Benedetti S, Bertini E, Iannaccone S, et al. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry, 2005, 76: 1019- 1021.

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