日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy

ACO2相关显性视神经萎缩的临床和遗传谱

Beaulieu, Cléis; Bouzidi, Aymane; Desquiret-Dumas, Valérie; Dieu, Xavier; Makam, Rahul; Jurkute, Neringa; Vignal, Catherine; Philibert, Manon; Odent, Sylvie; Zanlonghi, Xavier; Latypov, Marie; Debourdeau, Eloi; Bocquet, Béatrice; Yahia, Raihane; Pons, Linda; Villard, Frédéric Pollet; Jeanjean, Luc; Verrecchia, Sarah; Froment, Caroline; Engel, Camille; Poirsier, Céline; Arndt, Carl; Dollfus, Hélène; Gohier, Philippe; Charif, Majida; Ferré, Marc; Prunier-Mirebeau, Delphine; Meunier, Isabelle; Yu-Wai-Man, Patrick; Amati-Bonneau, Patrizia; Lenaers, Guy; Smirnov, Vasily

Integrative Proteogenomic Analysis Identifies Genetically Supported Plasma Proteins, Metabolites, and Pathways in Glaucoma

整合蛋白质基因组学分析鉴定青光眼中具有遗传支持的血浆蛋白、代谢物和通路

Yuan, Jiajia; Cui, Xuehao; Yu-Wai-Man, Patrick; Xiao, Xuan

Advanced therapies for inherited optic neuropathies

遗传性视神经病变的先进疗法

Wong, David Chuen Soong; Makam, Rahul; Yu-Wai-Man, Patrick

Digitalization of surgical features improves surgical accuracy via surgeon guidance and robotization

手术特征的数字化通过外科医生引导和机器人技术提高了手术精度。

Chen, Xiaoyun; Liu, Jiali; Liang, Hongli; Chen, Zelin; Liu, Zitian; Zheng, Yingfeng; Lian, Zhangkai; Luo, Lixia; Chen, Weirong; Wu, Mingxing; Zheng, Danying; Liu, Xialin; Cheng, Bing; Huang, Shengsong; Zhang, Xinyu; Jin, Ling; Luo, Yan; Liu, Zhenzhen; Long, Erping; Yu-Wai-Man, Patrick; Zheng, Weishi; Huang, Kai; Lin, Haotian; Liu, Yizhi

Current status and solutions for AI ethics in ophthalmology: a bibliometric analysis

眼科人工智能伦理的现状及解决方案:文献计量分析

Chen, Xinwei; Yang, Yahan; Yun, Dongyuan; Wang, Ruixin; Lin, Yuanfan; Luo, Mingjie; Zhang, Weixing; Yu-Wai-Man, Patrick; Burton, Matthew; Liang, Lingyi; Lin, Haotian

Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy

Lenadogene Nolparvovec基因疗法治疗Leber遗传性视神经病变的五年疗效

Yu-Wai-Man, Patrick; Newman, Nancy J; Biousse, Valérie; Carelli, Valerio; Moster, Mark L; Vignal-Clermont, Catherine; Klopstock, Thomas; Sadun, Alfredo A; Sergott, Robert C; Hage, Rabih; Degli Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Taiel, Magali; Sahel, José-Alain

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy

常染色体显性遗传性视神经萎缩中OPA1基因突变的病理生理机制对比

Yao, Shi-Qi; Liang, Jia-Jian; Zhou, Hui; Tan, Shaoying; Cao, Yingjie; Chen, Chong-Bo; Xu, Ciyan; Wang, Ruixi; Li, Tai-Ping; Zhao, Fang-Fang; Wang, Yun; He, Han-Jie; Zhang, Dan; Wang, Meng; Liu, Lifang; Yu-Wai-Man, Patrick; Wei, Shihui; Cen, Ling-Ping

CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy

CRISPRa介导的OPA1表达增加在显性视神经萎缩中的作用

Becchi, Giada; Whitehead, Michael; Harvey, Joshua P; Sladen, Paul E; Dushti, Mohammed; Chapple, J Paul; Yu-Wai-Man, Patrick; Cheetham, Michael E

Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy

接受 Lenadogene Nolparvovec 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

Sergott, Robert C; Carelli, Valerio; Newman, Nancy J; Biousse, Valérie; Yu-Wai-Man, Patrick; Vignal-Clermont, Catherine; Josse, Constant; Taiel, Magali; Sahel, José-Alain; Barboni, Piero

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick