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Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A, Micaglio E, Polsinelli I, Calamaio S, Melgari D, Prevostini R, Ghiroldi A, Binda A, Carrera P, Villa M, Mastrocinque F, Presi S, Salerno R, Boccellino A, Anastasia L, Ciconte G, Ricagno S, Pappone C, Rivolta I. Frosio A, et al. Among authors: melgari d. Int J Mol Sci. 2023 Oct 11;24(20):15089. doi: 10.3390/ijms242015089. Int J Mol Sci. 2023. PMID: 37894777 Free PMC article.
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
DiFrancesco JC, Ragona F, Murano C, Frosio A, Melgari D, Binda A, Calamaio S, Prevostini R, Mauri M, Canafoglia L, Castellotti B, Messina G, Gellera C, Previtali R, Veggiotti P, Milanesi R, Barbuti A, Solazzi R, Freri E, Granata T, Rivolta I. DiFrancesco JC, et al. Among authors: melgari d. Epilepsia. 2023 Dec;64(12):e222-e228. doi: 10.1111/epi.17777. Epub 2023 Oct 7. Epilepsia. 2023. PMID: 37746765
Alterations of the Sialylation Machinery in Brugada Syndrome.
Ghiroldi A, Ciconte G, Creo P, Tarantino A, Melgari D, D'Imperio S, Piccoli M, Cirillo F, Micaglio E, Monasky MM, Frosio A, Locati ET, Vicedomini G, Rivolta I, Pappone C, Anastasia L. Ghiroldi A, et al. Among authors: melgari d. Int J Mol Sci. 2022 Oct 29;23(21):13154. doi: 10.3390/ijms232113154. Int J Mol Sci. 2022. PMID: 36361941 Free PMC article.
T-Type Calcium Channels: A Mixed Blessing.
Melgari D, Frosio A, Calamaio S, Marzi GA, Pappone C, Rivolta I. Melgari D, et al. Int J Mol Sci. 2022 Aug 31;23(17):9894. doi: 10.3390/ijms23179894. Int J Mol Sci. 2022. PMID: 36077291 Free PMC article. Review.
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
Monasky MM, Micaglio E, Ciconte G, Rivolta I, Borrelli V, Ghiroldi A, D'Imperio S, Binda A, Melgari D, Benedetti S, Mitrovic P, Anastasia L, Mecarocci V, Ćalović Ž, Casari G, Pappone C. Monasky MM, et al. Among authors: melgari d. Int J Mol Sci. 2021 Apr 29;22(9):4700. doi: 10.3390/ijms22094700. Int J Mol Sci. 2021. PMID: 33946750 Free PMC article.
Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model.
Hirose S, Makiyama T, Melgari D, Yamamoto Y, Wuriyanghai Y, Yokoi F, Nishiuchi S, Harita T, Hayano M, Kohjitani H, Gao J, Kashiwa A, Nishikawa M, Wu J, Yoshimoto J, Chonabayashi K, Ohno S, Yoshida Y, Horie M, Kimura T. Hirose S, et al. Among authors: melgari d. Front Cell Dev Biol. 2020 Aug 13;8:761. doi: 10.3389/fcell.2020.00761. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32903469 Free PMC article.
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