VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference42 articles.
1. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy;Eisenberg;Nat. Genet.,2001
2. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE);Kayashima;J. Hum. Genet.,2002
3. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia;Kovach;Mol. Genet. Metab.,2001
4. A new familial disorder of combined lower motor neuron degeneration and skeletal disorganization;Tucker;Trans. Assoc. Am. Physicians,1982
5. Paget's disease and muscular dystrophy. Report of an unusual association in one family;McBride;Scott. Med. J.,1966
Cited by 201 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. Sunitinib-mediated inhibition of STAT3 in skeletal muscle and spinal cord does not affect the disease in a mouse model of ALS;Neurobiology of Disease;2024-09
2. Visualization of the Cdc48 AAA+ ATPase protein unfolding pathway;Nature Communications;2024-08-29
3. VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy models;Journal of Clinical Investigation;2024-05-23
4. Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes;International Journal of Molecular Sciences;2024-05-22
5. Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation;Annals of Clinical and Translational Neurology;2024-04-30
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