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Page 1
Epilepsy Course and Developmental Trajectories in STXBP1-DEE.
Balagura G, Xian J, Riva A, Marchese F, Ben Zeev B, Rios L, Sirsi D, Accorsi P, Amadori E, Astrea G, Baldassari S, Beccaria F, Boni A, Budetta M, Cantalupo G, Capovilla G, Cesaroni E, Chiesa V, Coppola A, Dilena R, Faggioli R, Ferrari A, Fiorini E, Madia F, Gennaro E, Giacomini T, Giordano L, Iacomino M, Lattanzi S, Marini C, Mancardi MM, Mastrangelo M, Messana T, Minetti C, Nobili L, Papa A, Parmeggiani A, Pisano T, Russo A, Salpietro V, Savasta S, Scala M, Accogli A, Scelsa B, Scudieri P, Spalice A, Specchio N, Trivisano M, Tzadok M, Valeriani M, Vari MS, Verrotti A, Vigevano F, Vignoli A, Toonen R, Zara F, Helbig I, Striano P. Balagura G, et al. Among authors: scelsa b. Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun. Neurol Genet. 2022. PMID: 35655584 Free PMC article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: scelsa b. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: scelsa b. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort.
Po' C, Nosadini M, Zedde M, Pascarella R, Mirone G, Cicala D, Rosati A, Cosi A, Toldo I, Colombatti R, Martelli P, Iodice A, Accorsi P, Giordano L, Savasta S, Foiadelli T, Sanfilippo G, Lafe E, Thyrion FZ, Polonara G, Campa S, Raviglione F, Scelsa B, Bova SM, Greco F, Cordelli DM, Cirillo L, Toni F, Baro V, Causin F, Frigo AC, Suppiej A, Sainati L, Azzolina D, Agostini M, Cesaroni E, De Carlo L, Di Rosa G, Esposito G, Grazian L, Morini G, Nicita F, Operto FF, Pruna D, Ragazzi P, Rollo M, Spalice A, Striano P, Skabar A, Lanterna LA, Carai A, Marras CE, Manara R, Sartori S. Po' C, et al. Among authors: scelsa b. Front Pediatr. 2022 May 6;10:892445. doi: 10.3389/fped.2022.892445. eCollection 2022. Front Pediatr. 2022. PMID: 35601411 Free PMC article.
Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support.
Grumi S, Provenzi L, Accorsi P, Biasucci G, Cavallini A, Decembrino L, Falcone R, Fazzi EM, Gardella B, Giacchero R, Guerini P, Grossi E, Magnani ML, Mariani EM, Nacinovich R, Pantaleo D, Pisoni C, Prefumo F, Sabatini C, Scelsa B, Spartà MV, Spinillo A, Giorda R, Orcesi S, Borgatti R. Grumi S, et al. Among authors: scelsa b. Front Psychiatry. 2021 Sep 3;12:716488. doi: 10.3389/fpsyt.2021.716488. eCollection 2021. Front Psychiatry. 2021. PMID: 34539466 Free PMC article.
Congenital Cytomegalovirus Infection With Isolated "Minor" Lesions at Fetal Magnetic Resonance Imaging: Long-Term Neurological Outcome.
Doneda C, Scelsa B, Introvini P, Zavattoni M, Orcesi S, Lombardi G, Pugni L, Fumagalli M, Rustico M, Vola E, Arrigoni F, Fabbri E, Tortora M, Izzo G, Genovese M, Parazzini C, Tassis B, Ronchi A, Pietrasanta C, Triulzi F, Righini A. Doneda C, et al. Among authors: scelsa b. Pediatr Neurol. 2024 Jun;155:104-113. doi: 10.1016/j.pediatrneurol.2024.03.001. Epub 2024 Mar 7. Pediatr Neurol. 2024. PMID: 38631078
Novel Genetic Variant in HUWE1: Prenatal and Postnatal Neuroimaging Phenotype.
Tortora M, Cattaneo E, Spaccini L, Iascone M, Scelsa B, Micalizzi A, Novelli A, Lanna M, Righini A, Veggiotti P, Doneda C. Tortora M, et al. Among authors: scelsa b. Neurol Genet. 2024 Jun 13;10(4):e200169. doi: 10.1212/NXG.0000000000200169. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 39139262 Free PMC article.
49 results