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

Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial

基因治疗后,莱伯西林相关性视网膜纤毛病患者视锥细胞介导的视觉功能恢复:一项 I/II 期试验的一年结果

Aleman, Tomas S; Uyhazi, Katherine E; Roman, Alejandro J; Weber, Mariejel L; O'Neil, Erin C; Swider, Malgorzata; Sumaroka, Alexander; Maguire, Katherine H; Aleman, Elena M; Santos, Arlene J; Kim, Rebecca J; Parchinski, Kelsey M; Billek, Andrew; Fradin, Makayla; Chung, William; Margaritis, Paris; Sun, Junwei; Scoles, Drew H; Wu, Vivian; Garafalo, Alexandra V; Jayagopal, Ashwath; Yerxa, Ben; Tuller, Sarah; Maguire, Albert M; Bennett, Jean; Cideciyan, Artur V

Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations

遗传性视网膜变性中模糊过渡区的感光细胞疾病

Sumaroka, Alexander; Swider, Malgorzata; Aleman, Tomas S; Cideciyan, Artur V

Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy

评估蓝锥单色视患者的视网膜结构和视觉功能,以建立L-视蛋白基因治疗的临床终点

Cideciyan, Artur V; Roman, Alejandro J; Warner, Raymond L; Sumaroka, Alexander; Wu, Vivian; Jiang, Yu Y; Swider, Malgorzata; Garafalo, Alexandra V; Viarbitskaya, Iryna; Russell, Robert C; Kohl, Susanne; Wissinger, Bernd; Ripamonti, Caterina; Barbur, John L; Bach, Michael; Carroll, Joseph; Morgan, Jessica I W; Aleman, Tomas S

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

与RDH12双等位基因变异相关的视网膜变性:儿科患者视网膜结构和视觉功能的纵向评估

Aleman, Tomas S; Roman, Alejandro J; Uyhazi, Katherine E; Jiang, Yu You; Bedoukian, Emma C; Sumaroka, Alexander; Wu, Vivian; Swider, Malgorzata; Viarbitskaya, Iryna; Russell, Robert C; Shagena, Elizabeth O; Santos, Arlene J; Serrano, Leona W; Parchinski, Kelsey M; Kim, Rebecca J; Weber, Mariejel L; Garafalo, Alexandra V; Thompson, Dorothy A; Maguire, Albert M; Bennett, Jean; Scoles, Drew H; O'Neil, Erin C; Morgan, Jessica I W; Cideciyan, Artur V

Erratum: Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

更正:基因疗法治疗由GUCY2D突变引起的儿童失明后,安全性和疗效均有所提高

Jacobson, Samuel G; Cideciyan, Artur V; Ho, Allen C; Peshenko, Igor V; Garafalo, Alexandra V; Roman, Alejandro J; Sumaroka, Alexander; Wu, Vivian; Krishnan, Arun K; Sheplock, Rebecca; Boye, Sanford L; Dizhoor, Alexander M; Boye, Shannon E

Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT

利用超高分辨率光学相干断层扫描(OCT)评估BEST1突变犬视网膜对光照的反应

Wu, Vivian; Swider, Malgorzata; Sumaroka, Alexander; Dufour, Valerie L; Vance, Joseph E; Aleman, Tomas S; Aguirre, Gustavo D; Beltran, William A; Cideciyan, Artur V

Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness

免疫疗法诱发的抗TRPM1自身抗体阳性单侧黑色素瘤相关视网膜病变(MAR)重现了TRPM1相关先天性静止性夜盲症的功能和结构细节。

Cohen, Devin C; Sumaroka, Alexander; Paulos, Joshua A; Mitchell, Tara C; Santos, Arlene J; O'Neil, Erin C; Bedoukian, Emma C; Adamus, Grazyna; Cideciyan, Artur V; Aleman, Tomas S

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

利用基因编辑治疗由C1QTNF5基因创始变异引起的迟发性视网膜变性

Li, Randa T H; Roman, Alejandro J; Sumaroka, Alexander; Stanton, Chloe M; Swider, Malgorzata; Garafalo, Alexandra V; Heon, Elise; Vincent, Ajoy; Wright, Alan F; Megaw, Roly; Aleman, Tomas S; Browning, Andrew C; Dhillon, Baljean; Cideciyan, Artur V

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

蓝锥单色视觉的色觉:临床试验的结果指标

Mascio, Abraham A; Roman, Alejandro J; Cideciyan, Artur V; Sheplock, Rebecca; Wu, Vivian; Garafalo, Alexandra V; Sumaroka, Alexander; Pirkle, Sydney; Kohl, Susanne; Wissinger, Bernd; Jacobson, Samuel G; Barbur, John L

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

由双等位基因BEST1突变引起的视网膜变性中的感光细胞功能和结构

Cideciyan, Artur V; Jacobson, Samuel G; Sumaroka, Alexander; Swider, Malgorzata; Krishnan, Arun K; Sheplock, Rebecca; Garafalo, Alexandra V; Guziewicz, Karina E; Aguirre, Gustavo D; Beltran, William A; Matsui, Yoshitsugu; Kondo, Mineo; Heon, Elise