Cardiac manifestations of PRKAG2 mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0512-6.pdf
Reference15 articles.
1. Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet. 2013;381:242–55. https://doi.org/10.1016/S0140-6736(12)60397-3 .
2. Elliott PM, Anastasakis A, Borger MA, et al. Authors/Task Force members. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2733–79. https://doi.org/10.1093/eurheartj/ehu284 .
3. Pöyhönen P, Hiippala A, Ollila L, Kaasalainen T, Hänninen H, Heliö T, et al. Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. J Cardiovasc Magn Reson. 2015;17:89. https://doi.org/10.1186/s12968-015-0192-3 .
4. Arad M, Woodrow Benson D, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109:357–62.
5. Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, et al. Identification of a gene responsible for familial Wolff-Parkinson-white syndrome. N Engl J Med. 2001;344:1823–31. https://doi.org/10.1056/NEJM200106143442403 .
Cited by 28 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. When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review;International Journal of Molecular Sciences;2024-08-23
2. Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome;Arquivos Brasileiros de Cardiologia;2024-08
3. Achados Ecocardiográficos em Crianças de Pacientes com Diagnóstico de Síndrome do PRKAG2;Arquivos Brasileiros de Cardiologia;2024-08
4. PRKAG2 Variant, Motor Neuron Disease, and Parkinsonism: Fortuitous Association or a Potentially Underestimated Pathophysiological Mechanism?;Muscles;2024-07-25
5. A Contemporary Review of the Genomic Associations of Coronary Artery Myocardial Bridging;Genes;2023-12-04
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