Nemaline myopathies: State of the art
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference31 articles.
1. Recent advances in nemaline myopathy;Romero;Curr Opin Neurol,2013
2. Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom;Maggi;Neuromuscul Disord,2013
3. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy;Malfatti;Neuromuscul Disord,2015
4. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy;Wallgren-Pettersson;Neuromuscul Disord,1999
5. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin;Wallgren-Pettersson;Neuromuscul Disord,2004
Cited by 49 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. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02
2. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition;Frontiers in Neurology;2024-03-04
3. Role of Actin-Binding Proteins in Skeletal Myogenesis;Cells;2023-10-25
4. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy;The American Journal of Pathology;2023-10
5. Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology;The American Journal of Pathology;2023-10
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