Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical),Neurology
Reference45 articles.
1. Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy;Nonaka;Curr Neurol Neurosci Rep,2005
2. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy;Nishino;Neurology,2002
3. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat Genet,2001
4. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE);Kayashima;J Hum Genet,2002
5. UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation;Keppler;Science,1999
Cited by 24 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. Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study;BMJ Neurology Open;2022-12
2. Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients;Muscle & Nerve;2021-11-12
3. A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy;Medicine;2020-10-09
4. Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan;Orphanet Journal of Rare Diseases;2020-09-11
5. GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description;Muscle & Nerve;2018-10-03
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