Spinal muscular atrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
http://www.springerlink.com/index/pdf/10.1016/j.nurt.2008.08.007
Reference74 articles.
1. Hoffmann J. Über chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis [On chronic spinal muscular atrophy in childhood, with a familial basis; in German]. Dtsch Z Nervenheilkd 1893;3: 427–470.
2. Werdnig G. Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage [Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis; in German]. Arch Psychiatr Nervenkr 1891;22: 437–480.
3. Gilliam TC, Brzustowicz LM, Castilla LH, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990;345: 823–825.
4. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80: 155–165.
5. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002;70: 358–368.
Cited by 52 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Gene therapy: principles, challenges and use in clinical practice;Wiener klinische Wochenschrift;2024-05-07
2. Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR;BMC Neurology;2024-03-11
3. IL-1Ra and CCL5, but not IL-10, are promising targets for treating SMA astrocyte-driven pathology;2023-08-14
4. Spinal muscular atrophy: health related quality of life and burden to parents;REVISTA CIÊNCIAS EM SAÚDE;2022-12-10
5. Viral mediated knockdown of GATA6 in SMA iPSC ‐derived astrocytes prevents motor neuron loss and microglial activation;Glia;2022-01-28
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3