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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S. Panneman DM, et al. Among authors: simonelli f. Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 36819107 Free PMC article.
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A, Banfi S. Lavorgna G, et al. Among authors: simonelli f. Biochem Biophys Res Commun. 2003 Aug 29;308(3):414-21. doi: 10.1016/s0006-291x(03)01410-4. Biochem Biophys Res Commun. 2003. PMID: 12914764
Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F, Bacci G, Falsini B, Iarossi G, Melillo P, Mucciolo DP, Murro V, Salvetti AP, Sodi A, Staurenghi G, Simonelli F. Testa F, et al. Among authors: simonelli f. Eye (Lond). 2024 Apr 16. doi: 10.1038/s41433-024-03065-6. Online ahead of print. Eye (Lond). 2024. PMID: 38627549 Review.
Ocular pharmacological and biochemical profiles of 6-thioguanine: a drug repurposing study.
Trotta MC, Gesualdo C, Lepre CC, Russo M, Ferraraccio F, Panarese I, Marano E, Grieco P, Petrillo F, Hermenean A, Simonelli F, D'Amico M, Bucolo C, Lazzara F, De Nigris F, Rossi S, Platania CBM. Trotta MC, et al. Among authors: simonelli f. Front Pharmacol. 2024 Mar 25;15:1375805. doi: 10.3389/fphar.2024.1375805. eCollection 2024. Front Pharmacol. 2024. PMID: 38590636 Free PMC article.
Ten Years of Experience With a Telemedicine Platform Dedicated to Health Care Personnel: Implementation Report.
Azzolini C, Premi E, Donati S, Falco A, Torreggiani A, Sicurello F, Baj A, Azzi L, Orro A, Porta G, Azzolini G, Sorrentino M, Melillo P, Testa F, Simonelli F, Giardina G, Paolucci U. Azzolini C, et al. Among authors: simonelli f. JMIR Med Inform. 2024 Jan 26;12:e42847. doi: 10.2196/42847. JMIR Med Inform. 2024. PMID: 38277199 Free PMC article.
252 results