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

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

Combined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.

通过 AAV 介导递送联合表达 hRdCVF 和 hRdCVFL 治疗视网膜色素变性。

Clérin Emmanuelle, Yang Ying, Pagan Delphine, Achiedo Seiki, Blond Frédéric, Millet-Puel Géraldine, Aït-Ali Najate, Harichane Imen, Dégardin Julie, César Quenol, Simonutti Manuel, Bennett Jean, Zeitz Christina, Audo Isabelle, Cronin Thérèse, Léveillard Thierry, Sahel José-Alain

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History

PCARE相关性视网膜病变——遗传学、临床特征和自然史

Bianco, Lorenzo; Antropoli, Alessio; Benadji, Amine; Atia, Raphaël; Palacci, Oana; Condroyer, Christel; Antonio, Aline; Navarro, Julien; Battaglia Parodi, Maurizio; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Retinal Impairments in Mice Lacking Both Nxnl1 and Nxnl2 Genes

缺乏Nxnl1和Nxnl2基因的小鼠出现视网膜损伤

Li, Zheng; Harichane, Imen; Cronin, Thérèse; Sahel, José-Alain; Léveillard, Thierry; Clérin, Emmanuelle; Zeitz, Christina; Audo, Isabelle

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy

RP1L1相关视网膜病变的表型和基因型特征

Antropoli, Alessio; Bianco, Lorenzo; Zanlonghi, Xavier; Benadji, Amine; Condroyer, Christel; Antonio, Aline; Navarro, Julien; Dhaenens, Claire-Marie; Sahel, José-Alain; Zeitz, Christina; Audo, Isabelle

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

利用纳米孔长读长测序技术解析X连锁视网膜色素变性患者的RPGR ORF15基因型

Vaché, Christel; Faugère, Valérie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Béatrice; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Françoise

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

先天性静止性夜盲症患儿屈光不正特征分析:一项多中心研究

Igelman, Austin D; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Hélène; Aleman, Tomas S; Bedoukian, Emma C; O'Neil, Erin C; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; McLean, Rebecca J; Munier, Francis L; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward

Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT

Voretigene neparvovec 治疗 RPE65 相关遗传性视网膜营养不良:一项为期 1 年的真实世界研究 LIGHT

Audo, Isabelle; Barale, Pierre-Olivier; Devisme, Céline; Mohand-Said, Saddek; Meunier, Isabelle; Smirnov, Vasily M; Dhaenens, Claire-Marie; Andrieu, Camille; Zeitz, Christina; Pagot, Chloé; Barbier, Pascaline; Tindel, Malka; Chapon, Perrine; Sahel, Jose-Alain

Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lacking Dusp4

Dusp4 缺乏的小鼠模型表现出近视敏感性增加和视网膜 ON/OFF 平衡改变

Wilmet, Baptiste; Michiels, Christelle; Zhang, Jingyi; Louboutin, Awen; Boranijasevic, Sanja; Frederiksen, Helen; Callebert, Jacques; Varin, Juliette; Gimenez, Marie-Laure; Morgans, Catherine; Duvoisin, Robert; Horan, Linda; Plevin, Robin; Picaud, Serge; Marre, Olivier; Audo, Isabelle; Zeitz, Christina