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Page 1
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.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, 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 M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: duncan jl. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. Update in: Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055 PMID: 37333224 Free PMC article. Updated. Preprint.
Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation.
Kandoi S, Martinez C, Chen KX, Reddy LVK, Mehine M, Mansfield BC, Duncan JL, Lamba DA. Kandoi S, et al. Among authors: duncan jl. medRxiv [Preprint]. 2023 Nov 6:2023.02.27.23286248. doi: 10.1101/2023.02.27.23286248. medRxiv. 2023. Update in: Elife. 2024 Apr 25;12:RP90575. doi: 10.7554/eLife.90575 PMID: 36909455 Free PMC article. Updated. Preprint.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, DiTroia S, O'Heir E, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: duncan jl. NPJ Genom Med. 2024 Nov 8;9(1):58. doi: 10.1038/s41525-024-00439-3. NPJ Genom Med. 2024. PMID: 39516462 Free PMC 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: duncan jl. 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: duncan jl. 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.
Long-term natural history of ellipsoid zone width in USH2A-retinopathy.
Heyang M, Warren JL, Ocieczek P, Duncan JL, Moosajee M, Del Priore LV, Shen LL. Heyang M, et al. Among authors: duncan jl. Br J Ophthalmol. 2024 Aug 5:bjo-2024-325323. doi: 10.1136/bjo-2024-325323. Online ahead of print. Br J Ophthalmol. 2024. PMID: 39103200 Free article.
366 results