Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine
Author:
Funder
King Saud University
Publisher
Elsevier BV
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference90 articles.
1. Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy;Aboshiha;Ophthalmology,2015
2. RDH12 mutations cause a severe retinal degeneration with relatively spared rod function;Aleman;Invest. Ophthalmol. Vis. Sci.,2018
3. Gene therapy for retinal degeneration;Apte;Cell,2018
4. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark;Astuti;Eur. J. Hum. Genet.,2016
5. Effect of gene therapy on visual function in Leber's congenital amaurosis;Bainbridge;N. Engl. J. Med.,2008
Cited by 23 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. Current developments of gene therapy in human diseases;MedComm;2024-08-16
2. Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis;Frontiers in Medicine;2024-01-09
3. Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases;Asia-Pacific Journal of Ophthalmology;2024-01
4. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice;Orphanet Journal of Rare Diseases;2023-07-31
5. Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review;Journal of Personalized Medicine;2023-01-29
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