Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy
Author:
Affiliation:
1. Department of NeurologyPeking University First Hospital Beijing China
2. Department of PediatricsPeking University First Hospital Beijing China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13745
Reference68 articles.
1. Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
2. Recent advances in nemaline myopathy
3. Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
4. THE PROGNOSTIC VALUE OF THE MUSCLE BIOPSY IN THE “FLOPPY INFANT”
5. NEMALINE MYOPATHY
Cited by 10 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. Differential inclusion ofNEBexons 143 and 144 provides insight intoNEB-related myopathy variant interpretation and disease manifestation;2024-03-26
2. Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures;Clinical Genetics;2024-01-26
3. Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center;Acta Neurologica Belgica;2023-07-31
4. Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants;European Journal of Human Genetics;2023-07-18
5. Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy;Frontiers in Genetics;2023-03-21
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