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RNA-based therapies in inherited retinal diseases.
Girach A, Audo I, Birch DG, Huckfeldt RM, Lam BL, Leroy BP, Michaelides M, Russell SR, Sallum JMF, Stingl K, Tsang SH, Yang P. Girach A, et al. Among authors: leroy bp. Ther Adv Ophthalmol. 2022 Nov 4;14:25158414221134602. doi: 10.1177/25158414221134602. eCollection 2022 Jan-Dec. Ther Adv Ophthalmol. 2022. PMID: 36388727 Free PMC article. Review.
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A. Burtscher V, et al. Among authors: leroy bp. Biochim Biophys Acta. 2014 Aug;1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4. Biochim Biophys Acta. 2014. PMID: 24796500 Free PMC article.
An ontological foundation for ocular phenotypes and rare eye diseases.
Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Among authors: leroy bp. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases.
Wong WM, Tham YC, Simunovic MP, Chen FK, Luu CD, Chen H, Jin ZB, Shen RJ, Li S, Sui R, Zhao C, Yang L, Bhende M, Raman R, Sen P, Ghosh A, Poornachandra B, Sasongko MB, Arianti A, Chia V, Mangunsong CO, Manurung F, Fujinami K, Ikeda H, Woo SJ, Kim SJ, Mohd Khialdin S, Othman O, Bastion MC, Kamalden AT, Lott PWP, Fong K, Shunmugam M, Lim A, Thapa R, Pradhan E, Rajkarnikar SP, Adhikari S, Ibañez BMBI, Koh A, Chan CMM, Fenner BJ, Tan TE, Laude A, Ngo WK, Holder GE, Su X, Chen TC, Wang NK, Kang EY, Huang CH, Surawatsatien N, Pisuchpen P, Sujirakul T, Kumaramanickavel G, Singh M, Leroy B, Michaelides M, Cheng CY, Chen LJ, Chan HW. Wong WM, et al. Asia Pac J Ophthalmol (Phila). 2024 Jan-Feb;13(1):100030. doi: 10.1016/j.apjo.2023.100030. Epub 2023 Dec 1. Asia Pac J Ophthalmol (Phila). 2024. PMID: 38233300 Free article.
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.
Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Carelli V, et al. Among authors: leroy bp. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30. Ophthalmol Ther. 2023. PMID: 36449262 Free PMC article.
Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy.
Vignal-Clermont C, Yu-Wai-Man P, Newman NJ, Carelli V, Moster ML, Biousse V, Subramanian PS, Wang AG, Donahue SP, Leroy BP, Sadun AA, Klopstock T, Sergott RC, Rebolleda Fernandez G, Chwalisz BK, Banik R, Taiel M, Roux M, Sahel JA; LHON STUDY GROUP. Vignal-Clermont C, et al. Among authors: leroy bp. Am J Ophthalmol. 2023 May;249:108-125. doi: 10.1016/j.ajo.2022.11.026. Epub 2022 Dec 8. Am J Ophthalmol. 2023. PMID: 36496192 Free article.
199 results