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Madeline Beckman, Leanne Clevenger, Meghan J. DeBenedictis, Alex Yuan & Sumit Sharma. (2023) A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy. Ophthalmic Genetics 44:6, pages 606-609.
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Rosa M Coco-Martin, Miguel Diego-Alonso, W Andres Orduz-Montaña, M Rosa Sanabria & Hortensia Sanchez-Tocino. (2021) Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies. Clinical Ophthalmology 15, pages 1075-1084.
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Dhimas H. Sakti, Elisa E. Cornish, Nina Mustafic, Afsah Zaheer, Stephanie Retsas, Sulekha Rajagopalan, Clara WT Chung, Lisa Ewans, Peter McCluskey, Benjamin M. Nash, Robyn V. Jamieson & John R. Grigg. (2021) MERTK retinopathy: biomarkers assessing vision loss. Ophthalmic Genetics 42:6, pages 706-716.
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Rachael C. Heath Jeffery, Syed Aqif Mukhtar, Ian L. McAllister, William H. Morgan, David A. Mackey & Fred K. Chen. (2021) Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia. Ophthalmic Genetics 42:4, pages 431-439.
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Articles from other publishers (34)
Anna Stepanova, Natalya Ogorodova, Vitaly Kadyshev, Olga Shchagina, Sergei Kutsev & Aleksandr Polyakov. (2023) A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation. Genes 14:11, pages 2056.
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Caroline Atef Tawfik, Maged Maher Roshdy & Nancy Magdy Morris. (2023) Prevalence of inherited retinal diseases in a large Egyptian cohort. BMC Ophthalmology 23:1.
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Robert E. MacLaren, M. Dominik Fischer, James A. Gow, Byron L. Lam, Eeva-Marja K. Sankila, Aniz Girach, Sushil Panda, Dan Yoon, Guolin Zhao & Mark E. Pennesi. (2023) Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial. Nature Medicine 29:10, pages 2464-2472.
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Hamideh Sabbaghi, Sina Madani, Hamid Ahmadieh, Narsis Daftarian, Fatemeh Suri, Farid Khorrami, Proshat Saviz, Mohammad Hasan Shahriari, Tahmineh Motevasseli, Sahba Fekri, Ramin Nourinia, Siamak Moradian & Abbas Sheikhtaheri. (2023) A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification. PLOS ONE 18:8, pages e0281858.
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Gustav Christensen, Yiyi Chen, Dileep Urimi, Laimdota Zizmare, Christoph Trautwein, Nicolaas Schipper & François Paquet-Durand. (2023) Pyruvate-conjugation of PEGylated liposomes for targeted drug delivery to retinal photoreceptors. Biomedicine & Pharmacotherapy 163, pages 114717.
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Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim & Suk Ho Byeon. (2023) Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee. Korean Journal of Ophthalmology 37:2, pages 166-186.
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Yujie Dong, Jie Yan, Ming Yang, Wenrong Xu, Zhulin Hu, François Paquet-Durand & Kangwei Jiao. (2023) Inherited Retinal Degeneration: Towards the Development of a Combination Therapy Targeting Histone Deacetylase, Poly (ADP-Ribose) Polymerase, and Calpain. Biomolecules 13:4, pages 581.
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Arjun Bhadhuri, Daniel Dröschel, Mike Guldimann, Claudia Jetschgo, Judit Banhazi, Matthias Schwenkglenks & C. Simone Sutherland. (2022) Cost-effectiveness of voretigene neparvovec in the treatment of patients with inherited retinal disease with RPE65 mutation in Switzerland. BMC Health Services Research 22:1.
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Joseph GriffithIIIIII, Kareem Sioufi, Laurie Wilbanks, George N. Magrath, Emil A. T. Say, Michael J. Lyons, Meg Wilkes, Gurpur Shashidhar Pai & Mae Millicent Winfrey Peterseim. (2022) Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review. Genes 13:8, pages 1490.
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Jing Jin, Liang Liang, Kun Jin, Hai-jiang Zhang, Rong Liu & Yin Shen. (2022) Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. Brain Topography 35:4, pages 525-535.
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Soumaya Belhadj, Nina Sofia Hermann, Yu Zhu, Gustav Christensen, Torsten Strasser & François Paquet-Durand. (2022) Visualizing Cell Death in Live Retina: Using Calpain Activity Detection as a Biomarker for Retinal Degeneration. International Journal of Molecular Sciences 23:7, pages 3892.
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Jie Yan, Alexander Günter, Soumyaparna Das, Regine Mühlfriedel, Stylianos Michalakis, Kangwei Jiao, Mathias W. Seeliger & François Paquet-Durand. (2022) Inherited Retinal Degeneration: PARP-Dependent Activation of Calpain Requires CNG Channel Activity. Biomolecules 12:3, pages 455.
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Yogita Kanan, Sean F. Hackett, Kamil Taneja, Mahmood Khan & Peter A. Campochiaro. (2022) Oxidative stress-induced alterations in retinal glucose metabolism in Retinitis Pigmentosa. Free Radical Biology and Medicine 181, pages 143-153.
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Juliana M. F. Sallum, Vinay Preet Kaur, Javed Shaikh, Judit Banhazi, Claudio Spera, Celia Aouadj, Daniel Viriato & M. Dominik Fischer. (2022) Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review. Advances in Therapy 39:3, pages 1179-1198.
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Saeideh Shojaei, Hamideh Sabbaghi, Yadollah Mehrabi, Narsis Daftarian, Koorosh Etemad & Hamid Ahmadieh. (2022) Vision-related quality of life in patients with inherited retinal dystrophies. Journal of Current Ophthalmology 34:1, pages 80.
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Jie Yan, Yiyi Chen, Yu Zhu & François Paquet-Durand. (2021) Programmed Non-Apoptotic Cell Death in Hereditary Retinal Degeneration: Crosstalk between cGMP-Dependent Pathways and PARthanatos?. International Journal of Molecular Sciences 22:19, pages 10567.
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Soumyaparna Das, Yiyi Chen, Jie Yan, Gustav Christensen, Soumaya Belhadj, Arianna Tolone & François Paquet-Durand. (2021) The role of cGMP-signalling and calcium-signalling in photoreceptor cell death: perspectives for therapy development. Pflügers Archiv - European Journal of Physiology 473:9, pages 1411-1421.
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