Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Author:
Funder
Foundation Fighting Blindness
European Commission
Retina UK
National Eye Institute
Publisher
Elsevier BV
Subject
Sensory Systems,Ophthalmology
Reference290 articles.
1. Gene therapy restores vision in a canine model of childhood blindness;Acland;Nat. Genet.,2001
2. Fundus-driven perimetry (microperimetry) compared to conventional static automated perimetry: similarities, differences, and clinical applications;Acton;Can. J. Ophthalmol.,2013
3. Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids;Agbaga;Proc. Natl. Acad. Sci. U. S. A.,2008
4. Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors;Aguirre-Lamban;Invest. Ophthalmol. Vis. Sci.,2011
5. Purification and characterization of ABCR from bovine rod outer segments;Ahn;Methods Enzymol.,2000
Cited by 165 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. Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants;Molecular Therapy - Nucleic Acids;2024-03
2. Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction;The American Journal of Human Genetics;2024-02
3. Nanomaterials in the diagnosis and treatment of ophthalmic diseases;Nano Today;2024-02
4. Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration;Ophthalmology Science;2024-01
5. Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort;Gene;2024-01
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