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The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. Gardella E, et al. Among authors: masnada s. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
von Stülpnagel C, Ensslen M, Møller RS, Pal DK, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack TB, Stöhr K, Kluger G, Borggraefe I. von Stülpnagel C, et al. Among authors: masnada s. Eur J Paediatr Neurol. 2017 May;21(3):530-541. doi: 10.1016/j.ejpn.2017.01.001. Epub 2017 Jan 14. Eur J Paediatr Neurol. 2017. PMID: 28109652
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Bonaventura E, Alberti L, Lucchi S, Cappelletti L, Fazzone S, Cattaneo E, Bellini M, Izzo G, Parazzini C, Bosetti A, Di Profio E, Fiore G, Ferrario M, Mameli C, Sangiorgio A, Masnada S, Zuccotti GV, Veggiotti P, Spaccini L, Iascone M, Verduci E, Cereda C, Tonduti D; XALD-NBS Study Group. Bonaventura E, et al. Among authors: masnada s. Front Neurol. 2024 Mar 6;15:1376447. doi: 10.3389/fneur.2024.1376447. eCollection 2024. Front Neurol. 2024. PMID: 38510379 Free PMC article.
Educational needs and career development of young epileptologists in Italy.
Spagnoli C, Duca M, Pelliccia V, Lanzone J, Masnada S, Chiarello D, Barco TL, Dono F, Nucera B. Spagnoli C, et al. Among authors: masnada s. Epilepsia Open. 2024 Apr;9(2):613-625. doi: 10.1002/epi4.12888. Epub 2024 Feb 22. Epilepsia Open. 2024. PMID: 38386334 Free PMC article.
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: masnada s. Brain. 2024 Feb 21:awae041. doi: 10.1093/brain/awae041. Online ahead of print. Brain. 2024. PMID: 38380699
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: masnada s. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P. Cutillo G, et al. Among authors: masnada s. Epilepsia Open. 2024 Feb;9(1):106-121. doi: 10.1002/epi4.12837. Epub 2023 Nov 27. Epilepsia Open. 2024. PMID: 37842880 Free PMC article.
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.
Vaia Y, Previtali R, Malgesini S, Patanè A, Masnada S, Lodi MAM, Veggiotti P, Tonduti D. Vaia Y, et al. Among authors: masnada s. Mov Disord Clin Pract. 2023 Feb 18;10(4):701-703. doi: 10.1002/mdc3.13674. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070048 Free PMC article. No abstract available.
41 results