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Isolated maculopathy associated with biallelic CRB1 mutations.
Shah N, Damani MR, Zhu XS, Bedoukian EC, Bennett J, Maguire AM, Leroy BP. Shah N, et al. Among authors: leroy bp. Ophthalmic Genet. 2017 Mar-Apr;38(2):190-193. doi: 10.3109/13816810.2016.1155225. Epub 2016 Apr 20. Ophthalmic Genet. 2017. PMID: 27096895 No abstract available.
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.
Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Maguire AM, et al. Among authors: leroy bp. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Epub 2009 Oct 23. Lancet. 2009. PMID: 19854499 Free PMC article. Clinical Trial.
The human visual cortex responds to gene therapy-mediated recovery of retinal function.
Ashtari M, Cyckowski LL, Monroe JF, Marshall KA, Chung DC, Auricchio A, Simonelli F, Leroy BP, Maguire AM, Shindler KS, Bennett J. Ashtari M, et al. Among authors: leroy bp. J Clin Invest. 2011 Jun;121(6):2160-8. doi: 10.1172/JCI57377. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606598 Free PMC article. Clinical Trial.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Among authors: leroy bp. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
Colour Vision in Stargardt Disease.
Vandenbroucke T, Buyl R, De Zaeytijd J, Bauwens M, Uvijls A, De Baere E, Leroy BP. Vandenbroucke T, et al. Among authors: leroy bp. Ophthalmic Res. 2015;54(4):181-94. doi: 10.1159/000438906. Epub 2015 Oct 23. Ophthalmic Res. 2015. PMID: 26492201
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Bonafede L, Ficicioglu CH, Serrano L, Han G, Morgan JI, Mills MD, Forbes BJ, Davidson SL, Binenbaum G, Kaplan PB, Nichols CW, Verloo P, Leroy BP, Maguire AM, Aleman TS. Bonafede L, et al. Among authors: leroy bp. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7875-87. doi: 10.1167/iovs.15-17857. Invest Ophthalmol Vis Sci. 2015. PMID: 26658511 Free PMC article.
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Among authors: leroy bp. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.
207 results