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The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM, Gardella E, Encinas AC, Lehesjoki AE, Linnankivi T, Petersen MB, Lund ICB, Blichfeldt S, Miranda MJ, Pal DK, Lascelles K, Procopis P, Orsini A, Bonuccelli A, Giacomini T, Helbig I, Fenger CD, Sisodiya SM, Hernandez-Hernandez L, Krithika S, Rumple M, Masnada S, Valente M, Cereda C, Giordano L, Accorsi P, Bürki SE, Mancardi M, Korff C, Guerrini R, von Spiczak S, Hoffman-Zacharska D, Mazurczak T, Coppola A, Buono S, Vecchi M, Hammer MF, Varesio C, Veggiotti P, Lal D, Brünger T, Zara F, Striano P, Rubboli G, Møller RS. Johannesen KM, et al. Among authors: valente m. Epilepsia. 2019 May;60(5):830-844. doi: 10.1111/epi.14705. Epub 2019 Apr 10. Epilepsia. 2019. PMID: 30968951
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome.
De Giorgis V, Masnada S, Varesio C, Chiappedi MA, Zanaboni M, Pasca L, Filippini M, Macasaet JA, Valente M, Ferraris C, Tagliabue A, Veggiotti P. De Giorgis V, et al. Among authors: valente m. Brain Behav. 2019 Mar;9(3):e01224. doi: 10.1002/brb3.1224. Epub 2019 Feb 4. Brain Behav. 2019. PMID: 30714351 Free PMC article.
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D. Masnada S, et al. Among authors: valente m. Eur J Paediatr Neurol. 2020 Sep;28:151-158. doi: 10.1016/j.ejpn.2020.07.007. Epub 2020 Jul 29. Eur J Paediatr Neurol. 2020. PMID: 32800686
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C, Gana S, Asaro A, Ballante E, Cabini RF, Tartara E, Bagnaschi M, Pasca L, Valente M, Orcesi S, Cereda C, Veggiotti P, Borgatti R, Valente EM, De Giorgis V. Varesio C, et al. Among authors: valente m, valente em. Diagnostics (Basel). 2021 May 25;11(6):948. doi: 10.3390/diagnostics11060948. Diagnostics (Basel). 2021. PMID: 34070668 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: valente m. 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.
1,731 results