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Deep phenotyping of PROM1-associated retinal degeneration
Schließleder, Gernot, Kalitzeos, Angelos, Kasilian, Melissa, Singh, Navjit, Wang, Ziyuan, Hu, Zhihong, Großpötzl, Manuel, Sadda, SriniVas, Wedrich, Andreas, Michaelides, Michel, Strauss, Rupert W
Published in British journal of ophthalmology (01.04.2024)
Published in British journal of ophthalmology (01.04.2024)
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Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration
Fahim, Abigail T, Bouzia, Zaina, Branham, Kari H, Kumaran, Neruban, Vargas, Mauricio E, Feathers, Kecia L, Perera, N Dayanthi, Young, Kelly, Khan, Naheed W, Heckenlively, John R, Webster, Andrew R, Pennesi, Mark E, Ali, Robin R, Thompson, Debra A, Michaelides, Michel
Published in British journal of ophthalmology (01.12.2019)
Published in British journal of ophthalmology (01.12.2019)
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TMEM97 ablation aggravates oxidant-induced retinal degeneration
Shen, Hongtao, Li, Jing, Heisler-Taylor, Tyler, Makin, Ryan, Yang, Huan, Mavlyutov, Timur A., Gelfand, Bradley, Cebulla, Colleen M., Guo, Lian-Wang
Published in Cellular signalling (01.10.2021)
Published in Cellular signalling (01.10.2021)
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Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, Pierce, Eric A.
Published in Human molecular genetics (01.01.2015)
Published in Human molecular genetics (01.01.2015)
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Evaluation of Progressive Visual Dysfunction and Retinal Degeneration in Patients With Parkinson's Disease
Satue, Maria, Rodrigo, Maria J., Obis, Javier, Vilades, Elisa, Gracia, Hector, Otin, Sofia, Fuertes, Maria I., Alarcia, Raquel, Crespo, Jose A., Polo, Vicente, Larrosa, Jose M., Pablo, Luis E., Garcia-Martin, Elena
Published in Investigative ophthalmology & visual science (01.02.2017)
Published in Investigative ophthalmology & visual science (01.02.2017)
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High-resolution Imaging in Male Germ Cell–Associated Kinase (MAK)-related Retinal Degeneration
Lew, Young Ju, Rinella, Nicholas, Qin, Jia, Chiang, Joanna, Moore, Anthony T., Porco, Travis C., Roorda, Austin, Duncan, Jacque L.
Published in American journal of ophthalmology (01.01.2018)
Published in American journal of ophthalmology (01.01.2018)
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Microglia at sites of atrophy restrict the progression of retinal degeneration via galectin-3 and Trem2
Yu, Chen, Lad, Eleonora M., Mathew, Rose, Shiraki, Nobuhiko, Littleton, Sejiro, Chen, Yun, Hou, Jinchao, Schlepckow, Kai, Degan, Simone, Chew, Lindsey, Amason, Joshua, Kalnitsky, Joan, Bowes Rickman, Catherine, Proia, Alan D., Colonna, Marco, Haass, Christian, Saban, Daniel R.
Published in The Journal of experimental medicine (04.03.2024)
Published in The Journal of experimental medicine (04.03.2024)
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Retinal Macrophages Synthesize C3 and Activate Complement in AMD and in Models of Focal Retinal Degeneration
Natoli, Riccardo, Fernando, Nilisha, Jiao, Haihan, Racic, Tanja, Madigan, Michele, Barnett, Nigel L., Chu-Tan, Joshua A., Valter, Krisztina, Provis, Jan, Rutar, Matt
Published in Investigative ophthalmology & visual science (01.06.2017)
Published in Investigative ophthalmology & visual science (01.06.2017)
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Evolution of retinal degeneration and prediction of disease activity in relapsing and progressive multiple sclerosis
Krämer, Julia, Balloff, Carolin, Weise, Margit, Koska, Valeria, Uthmeier, Yannik, Esderts, Isabell, Nguyen-Minh, Mai, Zimmerhof, Moritz, Hartmann, Alex, Dietrich, Michael, Ingwersen, Jens, Lee, John-Ih, Havla, Joachim, Kümpfel, Tania, Kerschensteiner, Martin, Häußler, Vivien, Heesen, Christoph, Stellmann, Jan-Patrick, Zimmermann, Hanna G., Oertel, Frederike C., Ringelstein, Marius, Brandt, Alexander U., Paul, Friedemann, Aktas, Orhan, Hartung, Hans-Peter, Wiendl, Heinz, Meuth, Sven G., Albrecht, Philipp
Published in Nature communications (19.06.2024)
Published in Nature communications (19.06.2024)
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Alterations in the balance of tubulin glycylation and glutamylation in photoreceptors leads to retinal degeneration
Bosch Grau, Montserrat, Masson, Christel, Gadadhar, Sudarshan, Rocha, Cecilia, Tort, Olivia, Marques Sousa, Patricia, Vacher, Sophie, Bieche, Ivan, Janke, Carsten
Published in Journal of cell science (01.03.2017)
Published in Journal of cell science (01.03.2017)
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Optical coherence tomography and molecular analysis of sudden acquired retinal degeneration syndrome (SARDS) eyes suggests the immune‐mediated nature of retinal damage
Grozdanic, Sinisa D., Lazic, Tatjana, Kecova, Helga, Mohan, Kabhilan, Kuehn, Markus H.
Published in Veterinary ophthalmology (01.05.2019)
Published in Veterinary ophthalmology (01.05.2019)
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Olfaction evaluation in dogs with sudden acquired retinal degeneration syndrome
Abrams, Kenneth L., Ward, Daniel A., Sabiniewicz, Agnieszka, Hummel, Thomas
Published in Veterinary ophthalmology (01.03.2024)
Published in Veterinary ophthalmology (01.03.2024)
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Relationship Between Foveal Cone Structure and Visual Acuity Measured With Adaptive Optics Scanning Laser Ophthalmoscopy in Retinal Degeneration
Foote, Katharina G., Loumou, Panagiota, Griffin, Shane, Qin, Jia, Ratnam, Kavitha, Porco, Travis C., Roorda, Austin, Duncan, Jacque L.
Published in Investigative ophthalmology & visual science (01.07.2018)
Published in Investigative ophthalmology & visual science (01.07.2018)
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Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5
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.
Published in Investigative ophthalmology & visual science (01.12.2023)
Published in Investigative ophthalmology & visual science (01.12.2023)
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Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration
Tsai, Wan-Chen, Liu, Yao-Lin, Tsai, Tzu-Hsun, Lai, Ying-Ju, Yang, Chang-Hao, Yang, Chung-May, Ho, Tzyy-Chang, Lin, Chang-Ping, Hsieh, Yi-Ting, Yeh, Po-Ting, Lin, Chao-Wen, Lai, Tso-Ting, Chen, Pei-Lung, Chen, Ta-Ching
Published in Eye (London) (01.12.2024)
Published in Eye (London) (01.12.2024)
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Characterization of Visual Field Loss Over 4 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study
Duncan, Jacque L., Maguire, Maureen G., McDaniel, Lee S., Doucet, Nicole R., Audo, Isabelle, Ayala, Allison R., Cheetham, Janet K., Cheng, Peiyao, Durham, Todd A., Huckfeldt, Rachel M., Hufnagel, Robert B., Jayasundera, K. Thiran, Khan, Naheed, Malbin, Brett, Maldonado, Ramiro S., Michaelides, Michel, Pennesi, Mark E., Weng, Christina Y., Zmejkoski, Alex, Aravind, Shobana, Ishikawa, Hiroshi, Birch, David G.
Published in American journal of ophthalmology (01.08.2025)
Published in American journal of ophthalmology (01.08.2025)
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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration
Bryant, Laura, Lozynska, Olga, Maguire, Albert, Aleman, Tomas, Bennett, Jean
Published in Clinical ophthalmology (Auckland, N.Z.) (01.01.2018)
Published in Clinical ophthalmology (Auckland, N.Z.) (01.01.2018)
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Eyes Shut Homolog-Associated Retinal Degeneration: Natural History, Genetic Landscape, and Phenotypic Spectrum
Soares, Ricardo Machado, Carvalho, Ana Luísa, Simão, Sílvia, Soares, Célia Azevedo, Raimundo, Miguel, Alves, C Henrique, Ambrósio, António Francisco, Murta, Joaquim, Saraiva, Jorge, Silva, Rufino, Marques, João Pedro
Published in Ophthalmology retina (01.07.2023)
Published in Ophthalmology retina (01.07.2023)
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