未登录 Electroretinography of disease activity and treatment response in birdshot chorioretinopathy 鸟枪脉络膜视网膜病变活动性与治疗反应的电生理检查 Rosenberg, Christopher R.; White, Elizabeth; Alsamarraie, Aseel; Suresh, Sandip; Tschetter, Wayne; Choi, Dongseok; Choi, Rene Y.; Weleber, Richard G.; Rosenbaum, James T.; Lin, Phoebe; Pennesi, Mark E.; Suhler, Eric B.; Yang, Paul 分享 收藏
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5 Parker, Maria a.; Erker, Laura r.; Audo, I. S. A. B. E. L. L. E.; Choi, D. O. N. G. S. E. O. K.; Mohand-said, S. A. D. D. E. K.; Sestakauskas, K. A. S. T. Y. T. I. S.; Benoit, P. A. T. R. I. C. K.; Appelqvist, T. E. R. E. N. C. E.; Krahmer, M. E. L. I. S. S. A.; Segaut-prevost, C. A. R. O. L. I. N. E.; Lujan, Brandon j.; Faridi, A. M. B. A. R.; Chegarnov, Elvira n.; Steinkamp, Peter n.; Ku, C. R. I. S. T. Y.; Palma, Mariana matioli da; Barale, Pierre-olivier; Ayelo-scheer, S. A. R. A. H.; Lauer, A. N. D. R. E. A. S.; Stout, T. I. M.; Wilson, David j.; Weleber, Richard g.; Pennesi, Mark e.; Sahel, JOSe A. L. A. I. N.; Yang, P. A. U. L. 分享 收藏
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia 受全光影响的患者中CNGA3基因的综合变异谱 Solaki, Maria; Baumann, Britta; Reuter, Peggy; Andreasson, Sten; Audo, Isabelle; Ayuso, Carmen; Balousha, Ghassan; Benedicenti, Francesco; Birch, David; Bitoun, Pierre; Blain, Delphine; Bocquet, Beatrice; Branham, Kari; Catala-Mora, Jaume; De Baere, Elfride; Dollfus, Helene; Falana, Mohammed; Giorda, Roberto; Golovleva, Irina; Gottlob, Irene; Heckenlively, John R.; Jacobson, Samuel G.; Jones, Kaylie; Jaegle, Herbert; Janecke, Andreas R.; Kellner, Ulrich; Liskova, Petra; Lorenz, Birgit; Martorell-Sampol, Loreto; Messias, Andre; Meunier, Isabelle; Belga Ottoni Porto, Fernanda; Papageorgiou, Eleni; Plomp, Astrid S.; de Ravel, Thomy J. L.; Reiff, Charlotte M.; Renner, Agnes B.; Rosenberg, Thomas; Rudolph, Guenther; Salati, Roberto; Sener, E. Cumhur; Sieving, Paul A.; Stanzial, Franco; Traboulsi, Elias, I; Tsang, Stephen H.; Varsanyi, Balazs; Weleber, Richard G.; Zobor, Ditta; Stingl, Katarina; Wissinger, Bernd; Kohl, Susanne 分享 收藏
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Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium Engel, Abbi L.; Wang, YeKai; Khuu, Thomas H.; Worrall, Emily; Manson, Megan A.; Lim, Rayne R.; Knight, Kaitlen; Yanagida, Aya; Qi, Jian Hua; Ramakrishnan, Aravind; Weleber, Richard G.; Klein, Michael L.; Wilson, David J.; Anand-Apte, Bela; Hurley, James B.; Du, Jianhai; Chao, Jennifer R. 分享 收藏
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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis 通过全基因组序列分析破译三个种族人群中IRD的遗传结构和人种学分布 Biswas, Pooja; Villanueva, Adda L.; Soto-Hermida, Angel; Duncan, Jacque L.; Matsui, Hiroko; Borooah, Shyamanga; Kumarov, Berzhan; Richard, Gabriele; Khan, Shahid Yar; Branham, Kari; Huang, Bonnie; Suk, John; Bakall, Benjamin; Goldberg, Jeffrey L.; Gabriel, Luis; Khan, Naheed W.; Raghavendra, Pongali B.; Zhao, Jason; Devalaraja, Sindhu; Huynh, Andrew; Alapati, Akhila; Zawaydeh, Qais; Weleber, Richard G.; Heckenlively, John R.; Hejtmancik, J. Fielding; Riazuddin, Sheikh; Sieving, Paul A.; Riazuddin, S. Amer; Frazer, Kelly A.; Ayyagari, Radha 分享 收藏
The Progression of Stargardt Disease Using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15 Schonbach, Etienne M.; Janeschitz-Kriegl, Lucas; Strauss, Rupert W.; Cattaneo, Marco E. G., V; Fujinami, Kaoru; Birch, David G.; Cideciyan, Artur, V; Sunness, Janet S.; Weleber, Richard G.; Ip, Michael S.; Sadda, SriniVas R.; Scholl, Hendrik P. N. 分享 收藏
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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy Shurygina, Maria F.; Simonett, Joseph M.; Parker, Maria A.; Mitchell, Amanda; Grigorian, Florin; Lifton, Jacob; Nagiel, Aaron; Shpak, Alexander A.; Dadali, Elena L.; Mishina, Irina A.; Weleber, Richard G.; Yang, Paul; Pennesi, Mark E. 分享 收藏
Long-Term Investigation of Retinal Function in Patients with Achromatopsia Georgiou, Michalis; Singh, Navjit; Kane, Thomas; Zaman, Serena; Hirji, Nashila; Aboshiha, Jonathan; Kumaran, Neruban; Kalitzeos, Angelos; Carroll, Joseph; Weleber, Richard G.; Michaelides, Michel 分享 收藏
Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa Yang, Paul; Lockard, Rachel; Titus, Hope; Hiblar, Jordan; Weller, Kyle; Wafai, Dahlia; Weleber, Richard G.; Duvoisin, Robert M.; Morgans, Catherine W.; Pennesi, Mark E. 分享 收藏
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Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography Alabduljalil, Talal; Patel, Rachel C.; Alqahtani, Abdullah A.; Gao, Simon S.; Gale, Michael J.; Zhang, Miao; Jia, Yali; Huang, David; Chiang, Pei-Wen; Chen, Rui; Wang, Jun; Weleber, Richard G.; Pennesi, Mark E.; Yang, Paul 分享 收藏
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene Chung, Daniel C.; Bertelsen, Mette; Lorenz, Birgit; Pennesi, Mark E.; Leroy, Bart P.; Hamel, Christian P.; Pierce, Eric; Sallum, Juliana; Larsen, Michael; Stieger, Knut; Preising, Markus; Weleber, Richard; Yang, Paul; Place, Emily; Liu, Emily; Schaefer, Grace; Distefano-Pappas, Julie; Elci, Okan U.; Mccague, Sarah; Wellman, Jennifer A.; High, Katherine A.; Reape, Kathleen Z. 分享 收藏
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy Burkard, Markus; Kohl, Susanne; Kraetzig, Timm; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Ding, Xi-Qin; Mayer, Anja K.; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Kellner, Ulrich; Venturelli, Sascha; Becirovic, Elvir; Issa, Peter Charbel; Koenekoop, Robert K.; Rudolph, Guenther; Heckenlively, John; Sieving, Paul; Weleber, Richard G.; Hamel, Christian; Zong, Xiangang; Biel, Martin; Lukowski, Robert; Seeliger, Matthias W.; Michalakis, Stylianos; Wissinger, Bernd; Ruth, Peter 分享 收藏
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration Mehat, Manjit S.; Sundaram, Venki; Ripamonti, Caterina; Robson, Anthony G.; Smith, Alexander J.; Borooah, Shyamanga; Robinson, Martha; Rosenthal, Adam N.; Innes, William; Weleber, Richard G.; Lee, Richard W. J.; Crossland, Michael; Rubin, Gary S.; Dhillon, Baljean; Steel, David H. W.; Anglade, Eddy; Lanza, Robert P.; Ali, Robin R.; Michaelides, Michel; Bainbridge, James W. B. 分享 收藏
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