Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference17 articles.
1. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment;Engel;Lancet Neurol,2015
2. Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes;Barisic;Eur J Paediatr Neurol,2011
3. Congenital myasthenic syndromes or inherited disorders of neuromuscular transmission: recent discoveries and open questions;Nicole;J Neuromuscul Dis,2017
4. Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita;Brownlow;J Clin Invest,2001
5. Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular junction;Muller;Expert Rev Mol Med,2007
Cited by 3 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. Infant with hypotonia;Neurogenetics for the Practitioner;2024
2. Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature;Journal of Personalized Medicine;2023-05-06
3. Novel serotonin-boosting effect of incense smoke from Kynam agarwood in mice: The involvement of multiple neuroactive pathways;Journal of Ethnopharmacology;2021-07
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