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Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.
Parekh B, Duncan JL, Samarakoon L, Melia M, Abalem MF, Andrews CA, Audo I, Ayala AR, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Huckfeldt RM, Lacy GD, Malbin B, Michaelides M, Musch DC, Peck-Dimit N, Stingl K, Weng CY, Zmejkoski AZ, Jayasundera KT; Foundation Fighting Blindness Clinical Consortium Investigator Group. Parekh B, et al. Among authors: duncan jl. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):5. doi: 10.1167/iovs.65.6.5. Invest Ophthalmol Vis Sci. 2024. PMID: 38833260
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: duncan jl. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Retinal Disorders.
Sahel JA, Banin E, Bennett J, Duncan JL, Roska B. Sahel JA, et al. Among authors: duncan jl. Cold Spring Harb Perspect Med. 2024 Apr 2:a041728. doi: 10.1101/cshperspect.a041728. Online ahead of print. Cold Spring Harb Perspect Med. 2024. PMID: 38565268
359 results