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148 results

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Page 1
NREM Sleep Instability in Pediatric Migraine Without Aura.
Roccella M, Marotta R, Operto FF, Smirni D, Precenzano F, Bitetti I, Messina G, Sessa F, Di Mizio G, Loreto C, Salerno M, Russo V, Murabito P, Gallai B, Esposito M, Iacono D, Carotenuto M. Roccella M, et al. Among authors: operto ff. Front Neurol. 2019 Aug 27;10:932. doi: 10.3389/fneur.2019.00932. eCollection 2019. Front Neurol. 2019. PMID: 31551903 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. Update in: Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y. PMID: 38293053 Free PMC article. Updated. Preprint.
Real-world use of adjunctive perampanel for focal-onset seizures in Italy: A mirroring clinical practice study of perampanel in adults and adolescents (AMPA).
D'Aniello A, Giallonardo AT, Tinuper P, Mecarelli O, Aguglia U, Assenza G, Gambardella A, Canevini MP, Scifo R, Meletti S, De Giorgis V, Bonanni E, Michelucci R, Cerminara C, Romeo A, Vigevano F, Operto FF, Tramacere L, Di Gennaro G; Alfonso Iudice on behalf of the AMPA Study group; Ngo LY, Patten A, Gentile AL, Pecori A, Goldman S. D'Aniello A, et al. Among authors: operto ff. Epilepsia Open. 2025 Aug;10(4):1074-1085. doi: 10.1002/epi4.70068. Epub 2025 Jun 4. Epilepsia Open. 2025. PMID: 40468531 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
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.
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.
148 results