A new mutation in PYGM causing McArdle disease in a Brazilian patient
Author:
Funder
Fundação de Amparo à Pesquisa do Estado de São Paulo
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-019-01159-7.pdf
Reference5 articles.
1. Nogales-Gadea G, Brull A, Santalla A, Andreu AL et al (2015) McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum Mutat 36:669–678
2. Brady S, Godfrey R, Scalco RS et al (2014) Emotionally-intense situations can result in rhabdomyolysis in McArdle disease. BMJ Case Rep. https://doi.org/10.1136/bcr-2013-203272
3. Stenson PD, Ball EV, Mort M et al (2003) Human gene mutation database (HGMD): 2003 update. Hum Mutat 21(6):577–581
4. Lorenzoni PJ, Werneck LC, Kay CSK et al (2018) Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease. Acta Neurol Belg 1:1. https://doi.org/10.1007/s13760-018-1038-1
5. Richards S, Azis N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424
Cited by 2 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. Identification of kukoamine a as an anti-osteoporosis drug target using network pharmacology and experiment verification;Molecular Medicine;2023-03-20
2. Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies;Genes;2021-12-28
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