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Year Number of Results
2010 9
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133 results

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Page 1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: trivisano m. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: trivisano m. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free PMC article.
Updated Genotype-Phenotype Correlations in TSC.
Curatolo P, Trivisano M, Specchio N. Curatolo P, et al. Among authors: trivisano m. Semin Pediatr Neurol. 2023 Oct;47:101086. doi: 10.1016/j.spen.2023.101086. Epub 2023 Sep 18. Semin Pediatr Neurol. 2023. PMID: 37919037 Review.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Among authors: trivisano m. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Schulz A, et al. Among authors: trivisano m. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8. Lancet Neurol. 2024. PMID: 38101904
What are the epileptic encephalopathies?
Trivisano M, Specchio N. Trivisano M, et al. Curr Opin Neurol. 2020 Apr;33(2):179-184. doi: 10.1097/WCO.0000000000000793. Curr Opin Neurol. 2020. PMID: 32049741 Review.
Epileptic encephalopathy.
Specchio N, Trivisano M, Scott RC, Ferrie C. Specchio N, et al. Among authors: trivisano m. Epilepsy Res Treat. 2012;2012:460256. doi: 10.1155/2012/460256. Epub 2012 Dec 31. Epilepsy Res Treat. 2012. PMID: 23346392 Free PMC article. No abstract available.
The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.
Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R, Curatolo P. Specchio N, et al. Among authors: trivisano m. Lancet Child Adolesc Health. 2024 Nov;8(11):821-834. doi: 10.1016/S2352-4642(24)00196-2. Lancet Child Adolesc Health. 2024. PMID: 39419567 Review.
Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.
Trivisano M, Ferretti A, Calabrese C, Pietrafusa N, Piscitello L, Carfi' Pavia G, Vigevano F, Specchio N. Trivisano M, et al. Front Neurol. 2022 Feb 25;13:845877. doi: 10.3389/fneur.2022.845877. eCollection 2022. Front Neurol. 2022. PMID: 35280270 Free PMC article. Review.
133 results