Prenatal diagnosis of congenital myopathies and muscular dystrophies
Author:
Affiliation:
1. Department of Obstetrics and Gynecology; Centre of Postgraduate Medical Education; Warsaw Poland
2. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland
3. Department of Neurology; Medical University of Warsaw; Poland
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference169 articles.
1. Inherited myopathies and muscular dystrophies;Cardamone;Semin Neurol,2008
2. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia;Romero;Brain,2003
3. Congenital myopathies. Natural history of a large pediatric cohort;Colombo;Neurology,2015
4. Cardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations;Verhaert;Circ Cardiovasc Imaging,2011
5. Approach to the diagnosis of congenital myopathies;North;Neuromuscul Disord,2014
Cited by 19 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. KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report;Genes;2024-02-05
2. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-01
3. The congenital muscular dystrophies;Annals of the Child Neurology Society;2023-12-20
4. Expression of Myomaker and Myomerger in myofibers causes muscle pathology;Skeletal Muscle;2023-05-01
5. Spinal muscular atrophy type 2: efficacy of risdiplam in a 7-year-old child;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-08-10
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