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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: michaelides m. Brain. 2024 May 13:awae055. doi: 10.1093/brain/awae055. Online ahead of print. Brain. 2024. PMID: 38735647
Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies.
Mishra AV, Vermeirsch S, Lin S, Martin-Gutierrez MP, Simcoe M, Pontikos N, Schiff E, de Guimarães TAC, Hysi PG, Michaelides M, Arno G, Webster AR, Mahroo OA. Mishra AV, et al. Among authors: michaelides m. Invest Ophthalmol Vis Sci. 2024 May 1;65(5):9. doi: 10.1167/iovs.65.5.9. Invest Ophthalmol Vis Sci. 2024. PMID: 38700873 Free PMC article.
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group. Cornelis SS, et al. Among authors: michaelides m. JAMA Ophthalmol. 2024 Apr 11:e240660. doi: 10.1001/jamaophthalmol.2024.0660. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 38602673
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom.
Woof W, de Guimarães TAC, Al-Khuzaei S, Varela MD, Sen S, Bagga P, Mendes B, Shah M, Burke P, Parry D, Lin S, Naik G, Ghoshal B, Liefers B, Fu DJ, Georgiou M, Nguyen Q, da Silva AS, Liu Y, Fujinami-Yokokawa Y, Kabiri N, Sumodhee D, Patel P, Furman J, Moghul I, Sallum J, De Silva SR, Lorenz B, Holz F, Fujinami K, Webster AR, Mahroo O, Downes SM, Madhusuhan S, Balaskas K, Michaelides M, Pontikos N. Woof W, et al. Among authors: michaelides m. medRxiv [Preprint]. 2024 Mar 28:2024.03.24.24304809. doi: 10.1101/2024.03.24.24304809. medRxiv. 2024. PMID: 38585957 Free PMC article. Preprint.
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S, Fabozzi L, Fujinami K, Fujinami-Yokokawa YU, Wright GA, Webster A, Mahroo O, Robson AG, Georgiou M, Michaelides M. Sen S, et al. Among authors: michaelides m. Am J Ophthalmol. 2024 Mar 23;264:205-215. doi: 10.1016/j.ajo.2024.03.009. Online ahead of print. Am J Ophthalmol. 2024. PMID: 38522724 Free article.
664 results