Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1186/s40478-018-0595-0.pdf
Reference13 articles.
1. Arnold K, Bordoli L, Kopp J, Schwede T (2006) The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22:195–201. https://doi.org/10.1093/bioinformatics/bti770
2. Baker NA, Sept D, Joseph S, Holst MJ, McCammon JA (2001) Electrostatics of nanosystems: application to microtubules and the ribosome. Proc Natl Acad Sci U S A 98:10037–10041. https://doi.org/10.1073/pnas.181342398
3. Ciciliot S, Rossi AC, Dyar KA, Blaauw B, Schiaffino S (2013) Muscle type and fiber type specificity in muscle wasting. Int J Biochem Cell Biol 45:2191–2199. https://doi.org/10.1016/j.biocel.2013.05.016
4. Clarke NF (2011) Congenital Fiber-type disproportion. Semin Pediatr Neurol 18:264–271. https://doi.org/10.1016/j.spen.2011.10.008
5. Dolinsky TJ, Czodrowski P, Li H, Nielsen JE, Jensen JH, Klebe G, Baker NA (2007) PDB2PQR: expanding and upgrading automated preparation of biomolecular structures for molecular simulations. Nucleic Acids Res 35:W522–W525. https://doi.org/10.1093/nar/gkm276
Cited by 14 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. A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6;Journal of Neuromuscular Diseases;2024-09-04
2. BS148 Reduces the Aggressiveness of Metastatic Melanoma via Sigma-2 Receptor Targeting;International Journal of Molecular Sciences;2023-06-02
3. Muscle magnetic resonance imaging involvement patterns in nemaline myopathies;Annals of Clinical and Translational Neurology;2023-06-02
4. KBTBD13 is a novel cardiomyopathy gene;Human Mutation;2022-11-20
5. Respiratory muscle function in patients with nemaline myopathy;Neuromuscular Disorders;2022-08
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