出处
《徐州医学院学报》
CAS
2003年第2期182-185,共4页
Acta Academiae Medicinae Xuzhou
基金
江苏省教委自然科学基金 (JW970 0 91 )
江苏省科委应用基金资助项目 (BJ980 0 83)
参考文献25
-
1Pearn J. Classification of spinal muscular atrophies[J]. Lancet, 1980,1 (8174) :919 - 922.
-
2Cobben JM, de Visser M, Scheffer H, et al. Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I[J]. J Neurol Neurosurg Psychiatry, 1993,56(3) :319 - 321.
-
3Brzustowicz LM, Lshner T, Castilla LH, et al. Genetic mapping of chronic childhood - onset spinal muscular atrophy to chromosome 5q11 .2 - 13.3[J] .Nature, 1990,344(6266) :540- 541.
-
4MelkiJ, AbdelhakS, ShethP, et al. Genefor chronic proximal spinal muscular atrophies maps to chromosome 5q [J]. Nature, 1990, 344(6268) :767 - 768.
-
5Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular array - determining gene[J]. Cell,1995,80(1 ): 155 - 165.
-
6Roy N, Mahadevan MS, McLesn M, et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy[J].Cell, 1995,80(1):167- 178.
-
7Campbell L, Potter A, Ignatius J, et al. G enomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype [J]. Am J Hum Genet, 1997,61 ( 1 ): 40 - 50.
-
8Feldkotter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real - time light cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrsphy[J]. Am J Hum Genet, 2002,70(2) :358 - 368.
-
9Patrizi AL, Tiziano F, Zappata S, et al. SMN protein analysis in fibroblast, anniocyte and CVS cultures form spinal muscular atrophy patients and its relevance for diagnosis[J]. Eur J Hum Genet, 1999, 7(3) :301 - 309.
-
10Velascc E, Valero C, Valero A, et al. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA)families and ccrrelation between number of copies of cBCD541 and SMA phenotype[J]. Hum Mol Genet, 1996,5(2) :257 - 263.
二级参考文献1
-
1Chang J G，Human Genet，1997年，100卷，577页
共引文献8
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1李文磊,吴婷,丁新生,姚娟,刘嘉茵,邓晓萱.胎儿脐带血产前诊断脊髓性肌萎缩症[J].南京医科大学学报（自然科学版）,2005,25(4):236-238. 被引量：2
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2李文磊,丁新生,吴婷,姚娟,邓晓萱.脊髓性肌萎缩症基因诊断[J].中华神经科杂志,2005,38(7):426-429. 被引量：2
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3郐艳荣,李晓红,左文莉.脊肌萎缩症的分子遗传学研究进展[J].中国优生与遗传杂志,2006,14(4):1-4. 被引量：4
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4雷美容,马晓玉,柯晓燕.1例脊髓性肌萎缩干细胞移植的观察及护理[J].护理研究（上旬版）,2011,25(2):374-375.
-
5王学禹,王念亮,孙文秀.脊肌萎缩症35例[J].实用儿科临床杂志,2000,15(1):32-33. 被引量：7
-
6麻宏伟,王阳,张宇瑾,张雅丽,宓真,武盈玉.脊髓性肌萎缩的基因诊断和产前基因诊断研究[J].中国实用儿科杂志,2000,15(4):219-220. 被引量：5
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7戴毅,崔丽英.脊髓性肌萎缩症的昨天、今天与明天[J].罕见病研究,2022,1(1):28-33. 被引量：2
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8吴婷,丁新生,姚娟,邓晓萱,王秀英,崔建华.羊水细胞培养进行脊肌萎缩症的产前诊断[J].徐州医学院学报,2003,23(2):98-100. 被引量：2
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1郐艳荣,李晓红,左文莉.脊肌萎缩症的分子遗传学研究进展[J].中国优生与遗传杂志,2006,14(4):1-4. 被引量：4
-
2桑丽丽,郭秀花.脊肌萎缩症遗传流行病学研究进展[J].中国公共卫生,2008,24(3):378-380. 被引量：1
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3陈章洲,徐仁伵.肌萎缩侧索硬化的基因治疗[J].中国老年学杂志,2014,34(7):1992-1995.
-
4刘宇,李洪.脊肌萎缩症治疗研究进展[J].现代中西医结合杂志,2010,19(15):1926-1928. 被引量：1
-
5刘玲,韩云飞,童铁,徐琦,虞梅,徐华.脊髓性肌萎缩症1例报道[J].中国当代儿科杂志,2006,8(2):172-172.
-
6龚丹,刘燕玲,李国林.脊髓性肌萎缩五例报告[J].江西医学院学报,2006,46(4):187-187.
-
7宋林,乐卫东.肌萎缩侧索硬化的基因及其分子机制研究进展[J].中国神经免疫学和神经病学杂志,2012,19(5):326-327. 被引量：2
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8李晓光.肌萎缩侧索硬化的营养支持治疗与经皮内镜下胃造瘘[J].中华神经科杂志,2010,43(2):139-141. 被引量：6
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9张云茜,章印红,王建林.脊髓性肌萎缩症的研究进展[J].重庆医学,2014,43(12):1521-1523. 被引量：9
-
10程敏,李梅,张琴.儿童型脊髓性肌萎缩的临床和电生理分析[J].第三军医大学学报,2009,31(7):646-647. 被引量：3
