Desminopathies: pathology and mechanisms
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine
Link
http://www.springerlink.com/index/pdf/10.1007/s00401-012-1057-6
Reference201 articles.
1. Agbulut O, Li Z, Perie S, Ludosky MA, Paulin D, Cartaud J, Butler-Browne G (2001) Lack of desmin results in abortive muscle regeneration and modifications in synaptic structure. Cell Motil Cytoskelet 49:51–66
2. Anderson J, Li Z, Goubel F (2001) Passive stiffness is increased in soleus muscle of desmin knockout mouse. Muscle Nerve 24:1090–1092
3. Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, Dal Bello B, Campana C, Piccolo G, Febo O, Opasich C, Gavazzi A, Ferrans VJ (1998) Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. J Am Coll Cardiol 31:645–653
4. Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, Repetto A, Bellini O, Azan G, Scaffino M, Campana C, Piccolo G, Vigano M, Tavazzi L (2006) Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 8:477–483
5. Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C (2006) Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation. Neuromuscul Disord 16:498–503
Cited by 182 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. De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report;Human Gene;2024-02
2. Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, through a Study of an Iranian Family with Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype‒Genotype Correlation Analysis;2024-01-08
3. Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?;Biochimie;2024-01
4. Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease Modeling;2023-12-28
5. Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria;2023-11-10
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