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183 results

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Page 1
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD).
Gregor AN, Black D, Wongchaisuwat N, Pennesi ME, Gillingham MB. Gregor AN, et al. Among authors: pennesi me. Mol Genet Metab Rep. 2024 Dec 2;41:101171. doi: 10.1016/j.ymgmr.2024.101171. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39686973 Free PMC article.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: pennesi me. J Inherit Metab Dis. 2024 Jul;47(4):746-756. doi: 10.1002/jimd.12738. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38623632
An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI Study.
MacLaren RE, Audo I, Fischer MD, Huckfeldt RM, Lam BL, Pennesi ME, Sisk R, Gow JA, Li J, Zhu K, Tsang SF. MacLaren RE, et al. Among authors: pennesi me. Hum Gene Ther. 2024 Aug;35(15-16):564-575. doi: 10.1089/hum.2024.017. Epub 2024 Jul 27. Hum Gene Ther. 2024. PMID: 38970425 Clinical Trial.
Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study.
Birch DG, Cheng P, Maguire MG, Duncan JL, Ayala AR, Cheetham JK, Doucet NR, Durham TA, Fahim AT, Ferris FL 3rd, Huckfeldt RM, Melia M, Michaelides M, Pennesi ME, Sahel JA, Stingl K, Vincent A, Weng CY. Birch DG, et al. Among authors: pennesi me. Ophthalmol Sci. 2024 Nov 8;5(2):100648. doi: 10.1016/j.xops.2024.100648. eCollection 2025 Mar-Apr. Ophthalmol Sci. 2024. PMID: 39811264 Free PMC article.
Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Uner OE, Elsharawi R, Reynolds M, Bacci GM, Bargiacchi S, Birch DG, Chen FK, Jain N, Heath Jeffery RC, Lamey TM, Mustafi D, da Palma MM, Sallum JMF, Torres Soto M, Jones K, Yang P, Pennesi ME, Everett LA. Uner OE, et al. Among authors: pennesi me. Ophthalmic Genet. 2025 Jan 6:1-11. doi: 10.1080/13816810.2024.2444619. Online ahead of print. Ophthalmic Genet. 2025. PMID: 39763288
Subretinal Gene Therapy Drug AGTC-501 for XLRP Phase 1/2 Multicenter Study (HORIZON): 24-Month Safety and Efficacy Results: Subretinal Gene Therapy AGTC-501 for XLRP Ph 1/2 24M Results.
Yang P, Birch D, Lauer A, Sisk R, Anand R, Pennesi ME, Iannaccone A, Yaghy A, Scaria A, Jung J, Curtiss D, Waheed NK. Yang P, et al. Among authors: pennesi me. Am J Ophthalmol. 2024 Dec 4:S0002-9394(24)00552-X. doi: 10.1016/j.ajo.2024.11.021. Online ahead of print. Am J Ophthalmol. 2024. PMID: 39643074 Free article.
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. Among authors: pennesi me. 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.
Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study.
Maguire MG, Birch DG, Duncan JL, Ayala AR, Ayton LN, Cheetham JK, Cheng P, Durham TA, Ferris FL 3rd, Hoyng CB, Huckfeldt RM, Jaffe GJ, Kay C, Lad EM, Leroy BP, Liang W, McDaniel LS, Melia M, Michaelides M, Pennesi ME, Sahel JA, Samarakoon L; REDI Working Group and the Foundation Fighting Blindness Clinical Consortium Investigator Group. Maguire MG, et al. Among authors: pennesi me. Transl Vis Sci Technol. 2024 Oct 1;13(10):15. doi: 10.1167/tvst.13.10.15. Transl Vis Sci Technol. 2024. PMID: 39382872 Free PMC article.
183 results