A novel bi‐allelic loss‐of‐function variant in MYOD1 : Further evidence for gene‐disease association and phenotypic variability in MYOD1 ‐related myopathy
Author:
Affiliation:
1. Department of Medical GeneticsKasturba Medical College, Manipal Academy of Higher Education Manipal Manipal India
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13596
Reference3 articles.
1. Reduced Differentiation Potential of Primary MyoD−/− Myogenic Cells Derived from Adult Skeletal Muscle
2. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
3. MYOD1 involvement in myopathy
Cited by 8 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. Gapped-kmer sequence modeling robustly identifies regulatory vocabularies and distal enhancers conserved between evolutionarily distant mammals;Nature Communications;2024-07-31
2. Gapped-kmer sequence modeling robustly identifies regulatory vocabularies and distal enhancers conserved between evolutionarily distant mammals;2023-10-06
3. Bilateral Vocal Fold Paralysis in a Patient With Congenital MYOD1 Myopathy;Ear, Nose & Throat Journal;2023-07-11
4. Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant;Journal of Neuromuscular Diseases;2022-09-09
5. Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies;European Journal of Translational Myology;2022-03-18
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