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Page 1
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Bassani S, et al. medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100. medRxiv. 2024. PMID: 38293053 Free PMC article. Preprint.
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.
Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C. Varesio C, et al. Among authors: operto ff. Orphanet J Rare Dis. 2023 Mar 21;18(1):63. doi: 10.1186/s13023-023-02628-2. Orphanet J Rare Dis. 2023. PMID: 36944981 Free PMC article.
The interplay between kisspeptin and endocannabinoid systems modulates male hypothalamic and gonadic control of reproduction in vivo.
Marino M, D'Auria R, Mele E, Pastorino GMG, Di Pietro P, D'Angelo S, Della Rocca N, Operto FF, Vecchione C, Fasano S, Pierantoni R, Viggiano A, Meccariello R, Santoro A. Marino M, et al. Among authors: operto ff. Front Endocrinol (Lausanne). 2023 Oct 12;14:1269334. doi: 10.3389/fendo.2023.1269334. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37900144 Free PMC article.
PLASTAMINATION: Outcomes on the Central Nervous System and Reproduction.
Santoro A, Marino M, Vandenberg LN, Szychlinska MA, Lamparelli EP, Scalia F, Rocca ND, D'Auria R, Giovanna Pastorino GM, Porta GD, Operto FF, Viggiano A, Cappello F, Meccariello R. Santoro A, et al. Among authors: operto ff. Curr Neuropharmacol. 2024 Feb 16. doi: 10.2174/1570159X22666240216085947. Online ahead of print. Curr Neuropharmacol. 2024. PMID: 38549522
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Among authors: operto ff. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
Topiramate ban in women of childbearing potential with idiopathic generalized epilepsy: Does effectiveness offset the teratogenic risks?
Cerulli Irelli E, Cocchi E, Mostacci B, Orlando B, Gesche J, Caraballo RH, Lattanzi S, Strigaro G, Catania C, Pulitano P, Panzini C, Ferlazzo E, Pascarella A, Casciato S, Pizzanelli C, Giuliano L, Viola V, Fortunato F, Di Gennaro G, Gambardella A, Labate A, Operto FF, Giallonardo AT, Baykan B, Beier CP, Di Bonaventura C; Women With Epilepsy Treatment Options and Research Study Group. Cerulli Irelli E, et al. Among authors: operto ff. Epilepsia. 2024 Mar;65(3):e27-e34. doi: 10.1111/epi.17892. Epub 2024 Jan 31. Epilepsia. 2024. PMID: 38294338
128 results