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The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.
Parmeggiani F, Weber M, Bremond-Gignac D, Daly A, Denee T, Lahaye M, Lotery A, Paudel N, Ritter M, Rodríguez de la Rúa E, Rotenstreich Y, Sankila EM, Stingl K, Van Denderen J, Pungor K. Parmeggiani F, et al. Among authors: sankila em. Eye (Lond). 2025 Jan 7. doi: 10.1038/s41433-024-03546-8. Online ahead of print. Eye (Lond). 2025. PMID: 39774292
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
von Krusenstiern L, Liu J, Liao E, Gow JA, Chen G, Ong T, Lotery AJ, Jalil A, Lam BL, MacLaren RE; XIRIUS Part 1 Study GroupXOLARIS Study Group. von Krusenstiern L, et al. JAMA Ophthalmol. 2023 Mar 1;141(3):275-283. doi: 10.1001/jamaophthalmol.2022.6254. JAMA Ophthalmol. 2023. PMID: 36757689 Free PMC article. Clinical Trial.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Tuupanen S, Gall K, Sistonen J, Saarinen I, Kämpjärvi K, Wells K, Merkkiniemi K, von Nandelstadh P, Sarantaus L, Känsäkoski J, Mårtenson E, Västinsalo H, Schleit J, Sankila EM, Kere A, Junnila H, Siivonen P, Andreevskaya M, Kytölä V, Muona M, Salmenperä P, Myllykangas S, Koskenvuo J, Alastalo TP. Tuupanen S, et al. Among authors: sankila em. Transl Vis Sci Technol. 2022 Jan 3;11(1):6. doi: 10.1167/tvst.11.1.6. Transl Vis Sci Technol. 2022. PMID: 34985506 Free PMC article.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME. Igelman AD, et al. Among authors: sankila em. Ophthalmic Genet. 2021 Dec;42(6):664-673. doi: 10.1080/13816810.2021.1946704. Epub 2021 Jul 5. Ophthalmic Genet. 2021. PMID: 34223797 Free PMC article.
62 results