• 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

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.

作者信息

Carelli Valerio, d'Adamo Pio, Valentino Maria Lucia, La Morgia Chiara, Ross-Cisneros Fred N, Caporali Leonardo, Maresca Alessandra, Loguercio Polosa Paola, Barboni Piero, De Negri Annamaria, Sadun Federico, Karanjia Rustum, Salomao Solange R, Berezovsky Adriana, Chicani Filipe, Moraes Milton, Moraes Filho Milton, Belfort Rubens, Sadun Alfredo A

机构信息

1 IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

3 Medical Genetics, Department of Reproductive Sciences, Development and Public Health, University of Trieste, Trieste, Italy 4 IRCCS-Burlo Garofolo Children Hospital, Trieste, Italy.

出版信息

Brain. 2016 Mar;139(Pt 3):e17. doi: 10.1093/brain/awv339. Epub 2015 Dec 10.

DOI:10.1093/brain/awv339
PMID:26657166
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6080496/
Abstract
摘要

相似文献

1
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.剖析莱伯遗传性视神经病变（LHON）患者的差异：疾病转化的遗传与环境触发因素
Brain. 2016 Mar;139(Pt 3):e17. doi: 10.1093/brain/awv339. Epub 2015 Dec 10.
2
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Brain. 2016 Mar;139(Pt 3):e18. doi: 10.1093/brain/awv340. Epub 2015 Dec 10.
3
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.显性遗传性视神经萎缩和Leber遗传性视神经病变：临床特征及当前治疗方法的最新进展
Semin Pediatr Neurol. 2017 May;24(2):129-134. doi: 10.1016/j.spen.2017.06.001. Epub 2017 Jun 30.
4
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.线粒体视神经病变——疾病机制与治疗策略。
Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26.
5
A Review of Mitochondrial Optic Neuropathies: From Inherited to Acquired Forms.线粒体视神经病变综述：从遗传性形式到获得性形式
J Optom. 2017 Oct-Dec;10(4):205-214. doi: 10.1016/j.optom.2016.09.003. Epub 2016 Dec 28.
6
Treatment of hereditary optic neuropathies.遗传性视神经病变的治疗。
Nat Rev Neurol. 2012 Oct;8(10):545-56. doi: 10.1038/nrneurol.2012.167. Epub 2012 Sep 4.
7
Therapeutic Approaches to Inherited Optic Neuropathies.遗传性视神经病变的治疗方法
Semin Neurol. 2015 Oct;35(5):578-86. doi: 10.1055/s-0035-1563574. Epub 2015 Oct 6.
8
Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.视神经病变中的新兴线粒体治疗靶点。
Pharmacol Ther. 2016 Sep;165:132-52. doi: 10.1016/j.pharmthera.2016.06.004. Epub 2016 Jun 8.
9
Treatment strategies for inherited optic neuropathies: past, present and future.遗传性视神经病变的治疗策略：过去、现在与未来。
Eye (Lond). 2014 May;28(5):521-37. doi: 10.1038/eye.2014.37. Epub 2014 Mar 7.
10
Mitochondrial optic neuropathies.线粒体视神经病变
Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5.

引用本文的文献

1
Late-onset Leber's hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?迟发性Leber遗传性视神经病变与前列腺癌的抗雄激素治疗：是否存在因果关系？
Front Neurol. 2025 Aug 13;16:1616992. doi: 10.3389/fneur.2025.1616992. eCollection 2025.
2
Evaluation of Visual and Optical Coherence Tomography Outcomes in Patients with Leber's Hereditary Optic Neuropathy Treated with Idebenone.艾地苯醌治疗Leber遗传性视神经病变患者的视觉及光学相干断层扫描结果评估
Life (Basel). 2025 Jul 23;15(8):1172. doi: 10.3390/life15081172.
3
Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy.接受利纳多基因诺帕罗韦克基因治疗的Leber遗传性视神经病变患者最终视觉结果的预测因素
Invest Ophthalmol Vis Sci. 2025 Jul 1;66(9):42. doi: 10.1167/iovs.66.9.42.
4
Leber's Hereditary Optic Neuropathy.莱伯遗传性视神经病变
Med Arch. 2025;79(3):241-248. doi: 10.5455/medarh.2025.79.241-248.
5
The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.Leber遗传性视神经病变与常染色体显性遗传性视神经萎缩的交叉点：存在致病性基因变异患者的临床特征
Am J Ophthalmol Case Rep. 2025 Apr 29;38:102346. doi: 10.1016/j.ajoc.2025.102346. eCollection 2025 Jun.
6
Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.代谢途径中的修饰变体与Leber遗传性视神经病变的外显率增加有关。
Eur J Hum Genet. 2025 May 9. doi: 10.1038/s41431-025-01860-7.
7
The landscape of rare mitochondrial DNA variants in sudden cardiac death: A potential role for ATP synthase.心脏性猝死中罕见线粒体DNA变异的情况：ATP合酶的潜在作用
Heliyon. 2024 Dec 31;11(1):e41592. doi: 10.1016/j.heliyon.2024.e41592. eCollection 2025 Jan 15.
8
Mitochondria in Retinal Ganglion Cells: Unraveling the Metabolic Nexus and Oxidative Stress.视网膜神经节细胞中的线粒体：揭开代谢关联和氧化应激之谜。
Int J Mol Sci. 2024 Aug 7;25(16):8626. doi: 10.3390/ijms25168626.
9
A challenging differential diagnosis - Leber's Hereditary Optic Neuropathy.一个具有挑战性的鉴别诊断——Leber遗传性视神经病变。
Rom J Ophthalmol. 2024 Jan-Mar;68(1):65-71. doi: 10.22336/rjo.2024.13.
10
Case report: Mutations in causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.病例报告：导致常染色体隐性遗传性视神经病变的基因突变在东欧人群中很常见。
Front Neurol. 2023 Dec 1;14:1292320. doi: 10.3389/fneur.2023.1292320. eCollection 2023.

本文引用的文献

1
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways.香烟毒性通过影响线粒体DNA拷贝数、氧化磷酸化和活性氧解毒途径引发Leber遗传性视神经病变。
Cell Death Dis. 2015 Dec 17;6(12):e2021. doi: 10.1038/cddis.2015.364.
2
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.线粒体DNA拷贝数可区分患有Leber遗传性视神经病变的个体与未受影响的突变携带者。
Brain. 2016 Jan;139(Pt 1):e1. doi: 10.1093/brain/awv216. Epub 2015 Jul 23.
3
Effects of tobacco smoking during pregnancy on oxidative stress in the umbilical cord and mononuclear blood cells of neonates.孕期吸烟对新生儿脐带和单核血细胞氧化应激的影响。
J Biomed Sci. 2014 Dec 30;21(1):105. doi: 10.1186/s12929-014-0105-z.
4
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.迟发性发病的Leber遗传性视神经病变：20例患者的临床和分子特征
Orphanet J Rare Dis. 2014 Oct 23;9:158. doi: 10.1186/s13023-014-0158-9.
5
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.高效的线粒体生物发生驱动了莱伯遗传性视神经病变的不完全外显率。
Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24.
6
Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy.酒精性和烟草性视神经病变患者中与Leber遗传性视神经病变相关的突变。
Mol Vis. 2011;17:3175-9. Epub 2011 Dec 7.
7
Idebenone treatment in Leber's hereditary optic neuropathy.艾地苯醌治疗Leber遗传性视神经病变。
Brain. 2011 Sep;134(Pt 9):e188. doi: 10.1093/brain/awr180. Epub 2011 Aug 2.
8
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.线粒体视神经病变——疾病机制与治疗策略。
Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26.
9
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.雌激素改善 Leber 遗传性视神经病变中的线粒体功能障碍。
Brain. 2011 Jan;134(Pt 1):220-34. doi: 10.1093/brain/awq276. Epub 2010 Oct 13.
10
Never too old to harbour a young man's disease?年纪再大也会患年轻人易得的病？
Br J Ophthalmol. 2011 Jun;95(6):887, 896-7. doi: 10.1136/bjo.2009.161539.