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

Vision Outcomes in Children Treated With Voretigene Neparvovec for RPE65-Associated Retinopathy

使用 Voretigene Neparvovec 治疗 RPE65 相关性视网膜病变的儿童的视力结果

Thompson, Dorothy A; De Smit, Elisabeth; Tan, Weijen; Handley, Siân E; Marmoy, Oliver R; Henderson, Robert H

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa

RPE65多变异等位基因致病性和功能分析:导致视网膜色素变性的致病性及功能分析

Wu, Guiyue; Guo, Qingge; Li, Ya; Yao, Shun; You, Ya; Hao, Leilei; Lei, Bo

Chorioretinal Atrophy after Voretigene Neparvovec Therapy in <italic>RPE65</italic> Mutation-Associated Inherited Retinal Disease: Longitudinal Characterization in Multimodal Imaging

Voretigene Neparvovec 治疗后 RPE65 突变相关遗传性视网膜疾病的脉络膜视网膜萎缩:多模态成像的纵向特征分析

Sassen, Sandrine H; Sassmannshausen, Marlene; Sassen, Josua; Preising, Markus N; Scholz, Johanna P; Holz, Frank G; Lorenz, Birgit; Herrmann, Philipp

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy

基于深度学习的SD-OCT层分割量化了接受基因治疗的双等位基因RPE65突变患者的外层视网膜变化

Pinedo-Diaz, German; Lorenz, Birgit; Künzel, Sandrine H; Thiele, Sarah; Ortega-Cisneros, Susana; Corrochano, Eduardo Bayro; Holz, Frank G; Effland, Alexander

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database

在正常数据库中确定单等位基因和双等位基因预测致病性RPE65变异体的群体频率

Abdul, Rahman; Liu, Xiaoyi; Choi, Kirsty; Huang, Mary; Mack, Heather; Savige, Judy

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene

用于了解RPE65基因中意义不明变异致病性的高通量检测方法

Azizzadeh Pormehr, Leila; Manian, Kannan Vrindavan; Cho, Ha Eun; Redmond, T Michael; Comander, Jason

Efficacy and Safety of Voretigene Neparvovec in RPE65-Retinopathy: Results of a Phase III Trial in Japan

Voretigene Neparvovec治疗RPE65视网膜病变的疗效和安全性:一项在日本开展的III期临床试验结果

Fujinami, Kaoru; Akiyama, Kunihiko; Tsunoda, Kazushige; Ito, Saori; Seko, Noriko; Yamamoto, Shuichi

Regulation of RPE65 expression in human retinal pigment epithelium cells

人视网膜色素上皮细胞中RPE65表达的调控

Olga A Postnikova ,Samuel William ,Sheetal Uppal ,Steven L Bernstein ,Eugenia Poliakov ,Igor B Rogozin ,T Michael Redmond

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy

接受voretigene neparvovec基因治疗的RPE65介导的遗传性视网膜营养不良患儿12个月疗效

Daruich, Alejandra; Rateaux, Maxence; Batté, Emilie; de Vergnes, Nathalie; Valleix, Sophie; Robert, Matthieu P; Bremond Gignac, Dominique