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A registry for Dravet syndrome: The Italian experience.
Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D; Residras Collaboration Group; Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R. Balestrini S, et al. Among authors: brambilla i. Epilepsia Open. 2023 Jun;8(2):517-534. doi: 10.1002/epi4.12730. Epub 2023 Mar 30. Epilepsia Open. 2023. PMID: 36938796 Free PMC article.
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey.
Cossu A, Lo Barco T, Proietti J, Dalla Bernardina B, Cantalupo G, Ghobert L, Brambilla I, Giarola E, Costa A, De Benito T, Bethge S, Cardot S, Montwill I, Remonato E, Gramaglia S, Darra F. Cossu A, et al. Among authors: brambilla i. Epilepsy Behav. 2023 May;142:109153. doi: 10.1016/j.yebeh.2023.109153. Epub 2023 Mar 28. Epilepsy Behav. 2023. PMID: 36989566 Free article.
Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE.
Nott E, Behl KE, Brambilla I, Green TE, Lucente M, Vavassori R, Watson A, Dalla Bernardina B, Hildebrand MS. Nott E, et al. Among authors: brambilla i. Eur J Med Genet. 2023 Mar;66(3):104680. doi: 10.1016/j.ejmg.2022.104680. Epub 2023 Jan 6. Eur J Med Genet. 2023. PMID: 36623768 No abstract available.
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Nabbout R, Zanello G, Baker D, Black L, Brambilla I, Buske OJ, Conklin LS, Davies EH, Julkowska D, Kim Y, Klopstock T, Nakamura H, Nielsen KG, Pariser AR, Pastor JC, Scarpa M, Smith M, Taruscio D, Groft S. Nabbout R, et al. Among authors: brambilla i. Orphanet J Rare Dis. 2023 May 9;18(1):109. doi: 10.1186/s13023-023-02650-4. Orphanet J Rare Dis. 2023. PMID: 37161573 Free PMC article.
140 results