The collagen VI-related myopathies: muscle meets its matrix
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/nrneurol.2011.81.pdf
Reference121 articles.
1. Okada, M. et al. Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 69, 1035–1042 (2007).
2. Norwood, F. L. et al. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain 132, 3175–3186 (2009).
3. Peat, R. A. et al. Diagnosis and etiology of congenital muscular dystrophy. Neurology 71, 312–321 (2008).
4. Ullrich, O. Congenital, atonic–sclerotic muscular dystrophy, an additional type of heredo-degenerative illness of the neuromuscular system [German]. Z. Ges. Neurol. Psychiat. 126, 171–201 (1930).
5. Ullrich, O. Congenital atonic–sclerotic muscular dystrophy [German]. Monatsschr. Kinderheilkd. 47, 502–510 (1930).
Cited by 247 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. Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy;Molecular Therapy - Nucleic Acids;2024-09
2. ALKBH5 governs human endoderm fate by regulating the DKK1/4-mediated Wnt/β-catenin activation;Nucleic Acids Research;2024-08-21
3. Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene;Clinical Case Reports;2024-08
4. Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy;Molecular Therapy - Nucleic Acids;2024-06
5. A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1;Neurology;2024-06
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