Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference24 articles.
1. A new congenital muscular dystrophy with mitochondrial structural abnormalities
2. A Rostrocaudal Muscular Dystrophy Caused by a Defect in Choline Kinase Beta, the First Enzyme in Phosphatidylcholine Biosynthesis
3. C.P.2.12 Congenital muscular dystrophy with mental retardation, dilated cardiomyopathy and abnormally located mitochondria
4. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis
5. Congenital Neuromuscular Disorder With Predominant Mitochondrial Changes in Type II Muscle Fibers
Cited by 39 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. Megaconial congenital muscular dystrophy: Importance of cutaneous features and successful response to ustekinumab;Pediatric Dermatology;2024-08-14
2. Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB;Journal of the European Academy of Dermatology and Venereology;2023-11-10
3. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients;Neuromuscular Disorders;2023-07
4. Large heterozygous deletion and uniparental disomy masquerading as homozygosity inCHKBgene;Molecular Genetics & Genomic Medicine;2023-03-10
5. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review;Skeletal Muscle;2022-09-29
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