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Page 1
Impact of Dietary Fats on Brain Functions.
Chianese R, Coccurello R, Viggiano A, Scafuro M, Fiore M, Coppola G, Operto FF, Fasano S, Laye S, Pierantoni R, Meccariello R. Chianese R, et al. Among authors: operto ff. Curr Neuropharmacol. 2018;16(7):1059-1085. doi: 10.2174/1570159X15666171017102547. Curr Neuropharmacol. 2018. PMID: 29046155 Free PMC article. Review.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
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.
The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study.
Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EMA study group. Cerulli Irelli E, et al. Among authors: operto ff. Epilepsia. 2022 Oct 28. doi: 10.1111/epi.17450. Online ahead of print. Epilepsia. 2022. PMID: 36307934
Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.
Cerulli Irelli E, Cocchi E, Ramantani G, Morano A, Riva A, Caraballo RH, Giuliano L, Yilmaz T, Panagiotakaki E, Operto FF, Giraldez BG, Balestrini S, Silvennoinen K, Casciato S, Comajuan M, Fortunato F, Giallonardo AT, Gamirova R, Coppola A, Di Gennaro G, Labate A, Sofia V, Kluger GJ, Gambardella A, Kasteleijn-Nolst Trenite D, Baykan B, Sisodiya SM, Arzimanoglou A, Striano P, Di Bonaventura C; EEM Study Group. Cerulli Irelli E, et al. Among authors: operto ff. Epilepsia. 2023 Jun;64(6):e105-e111. doi: 10.1111/epi.17609. Epub 2023 Apr 18. Epilepsia. 2023. PMID: 37021337
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.
Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: A multicenter retrospective study.
Matricardi S, Cesaroni E, Bonanni P, Foschi N, D Aniello A, Di Gennaro G, Striano P, Cappanera S, Siliquini S, Freri E, Ragona F, Granata T, Deleo F, Villani F, Russo A, Messana T, Siri L, Bagnasco I, Vignoli A, Operto FF, Orsini A, Bonuccelli A, Papa A, Peruzzi C, Liguori C, Verrotti A, Chiarelli F, Marini C, Lattanzi S. Matricardi S, et al. Among authors: operto ff. Epilepsia. 2023 Jun;64(6):e98-e104. doi: 10.1111/epi.17601. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 37000415 Free article.
WISC-IV intellectual profiles in Italian children with self-limited epilepsy with centrotemporal spikes.
Zanaboni MP, Pasca L, Bova SM, Chiappedi MA, Filippini M, Giordano L, Grumi S, Micheletti S, Operto FF, Pruna D, Ragona F, Raviglione F, Totaro M, Varesio C, Vignoli A, De Giorgis V; EpilEpsyIt study group. Zanaboni MP, et al. Among authors: operto ff. Epileptic Disord. 2023 Apr;25(2):160-172. doi: 10.1002/epd2.20003. Epub 2023 May 4. Epileptic Disord. 2023. PMID: 37358910
128 results