• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.

作者信息

Mansukhani Sasha A, Mehta Dev G, Renaud Deborah L, Whealy Mark A, Chen John J, Bhatti M Tariq

机构信息

Department of Ophthalmology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

Department of Neurology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

出版信息

Ophthalmology. 2021 Apr;128(4):628-631. doi: 10.1016/j.ophtha.2020.09.011. Epub 2020 Sep 9.

DOI:10.1016/j.ophtha.2020.09.011
PMID:32918965
Abstract
摘要

相似文献

1
Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.导致表型性Leber遗传性视神经病变叠加综合征的核DNA突变
Ophthalmology. 2021 Apr;128(4):628-631. doi: 10.1016/j.ophtha.2020.09.011. Epub 2020 Sep 9.
2
Leber hereditary optic neuropathy and multiple sclerosis: the mitochondrial connection.
Can J Ophthalmol. 2015 Feb;50(1):e14-7. doi: 10.1016/j.jcjo.2014.10.018.
3
Retinal ganglion cell analysis in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中的视网膜神经节细胞分析
Ophthalmology. 2013 Sep;120(9):1943-4.e5. doi: 10.1016/j.ophtha.2013.05.031.
4
Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中 11778 号和 14484 号突变的视网膜神经纤维层比较。
Eye (Lond). 2010 Jan;24(1):107-11. doi: 10.1038/eye.2009.36. Epub 2009 Feb 27.
5
Leber hereditary optic neuropathy due to a new ND1 mutation.由一种新的ND1突变引起的Leber遗传性视神经病变。
Ophthalmic Genet. 2017 Sep-Oct;38(5):480-485. doi: 10.1080/13816810.2016.1253108. Epub 2017 Jan 31.
6
Latent, acute, and chronic Leber's hereditary optic neuropathy.潜伏性、急性和慢性Leber遗传性视神经病变。
Ophthalmology. 2005 Jan;112(1):1-2. doi: 10.1016/j.ophtha.2004.10.021.
7
A Case of Atypical Leber Hereditary Optic Neuropathy With Slow, Symmetrical Progression Over Three Years.
J Neuroophthalmol. 2018 Sep;38(3):421-422. doi: 10.1097/WNO.0000000000000687.
8
Cognitive Impairment in Phenotypic Leber Hereditary Optic Neuropathy Caused by Mutation in Nuclear Gene NDUFAF5.
J Neuroophthalmol. 2024 Mar 1;44(1):e20-e22. doi: 10.1097/WNO.0000000000001760. Epub 2022 Dec 29.
9
Progressive Bilateral Cecocentral Scotomata.进行性双侧盲中心暗点
JAMA Ophthalmol. 2019 Jan 1;137(1):107-108. doi: 10.1001/jamaophthalmol.2018.4144.
10
Structural and functional degeneration of retinal nerves in sibling carriers of a Leber's hereditary optic neuropathy mutation.
Can J Ophthalmol. 2018 Feb;53(1):e1-e4. doi: 10.1016/j.jcjo.2017.05.010. Epub 2017 Aug 4.

引用本文的文献

1
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.826个家族中视神经萎缩的临床和遗传图谱：来自50个核基因的见解
Brain. 2025 May 13;148(5):1604-1620. doi: 10.1093/brain/awae324.
2
Pearls & Oy-sters: Leber Hereditary Optic Neuropathy-Plus Masquerading as Neuromyelitis Optica Spectrum Disorder in a 2-Year-Old Child.珍珠与牡蛎：2 岁儿童以莱伯遗传性视神经病变-视神经脊髓炎谱系疾病为特征的表现
Neurology. 2023 Dec 12;101(24):e2585-e2588. doi: 10.1212/WNL.0000000000207979. Epub 2023 Oct 12.
3
Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy.
持续缺氧可减少线粒体视神经病变小鼠模型中的视网膜神经节细胞变性。
Invest Ophthalmol Vis Sci. 2022 Dec 1;63(13):21. doi: 10.1167/iovs.63.13.21.
4
From Bench to Bedside-Delivering Gene Therapy for Leber Hereditary Optic Neuropathy.从实验室到病床：治疗莱伯遗传性视神经病变的基因疗法。
Cold Spring Harb Perspect Med. 2022 Jul 21;12(6):a041282. doi: 10.1101/cshperspect.a041282.
5
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.毒性和营养因素引发了由于线粒体 tRNA 突变导致的莱伯遗传性视神经病变。
Clin Genet. 2022 Oct;102(4):339-344. doi: 10.1111/cge.14189. Epub 2022 Jul 18.