Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy
Author:
Affiliation:
1. Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Chuo-ku, Kobe, Japan
2. Department of Neurology, Division of Neuroscience, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan
Publisher
IOS Press
Subject
Clinical Neurology,Neurology
Reference65 articles.
1. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals;Koenig;Cell,1987
2. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle;Ervasti;Nature,1990
3. Dystroglycan: From biosynthesis to pathogenesis of human disease;Barresi;J Cell Sci,2006
4. Molecular mechanisms of muscular dystrophies: Old and new players;Davies;Nat Rev Mol Cell Biol,2006
5. A dystroglycan mutation associated with limb-girdle muscular dystrophy;Hara;N Engl J Med,2011
Cited by 29 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. Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice;Molecular Therapy;2024-08
2. Oral ribose supplementation in dystroglycanopathy: A single case study;JIMD Reports;2024-03-04
3. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients;Journal of Neuromuscular Diseases;2023-07-04
4. The many roles of dystroglycan in nervous system development and function;Developmental Dynamics;2022-07-18
5. Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern;International Journal of Molecular Sciences;2022-06-15
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