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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: pellegrin s. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
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: pellegrin s. 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.
Awake brain surgery: toward optimal cognitive explorations.
Salillas E, De Pellegrin S, Semenza C. Salillas E, et al. Among authors: de pellegrin s. Front Hum Neurosci. 2024 Mar 27;18:1369462. doi: 10.3389/fnhum.2024.1369462. eCollection 2024. Front Hum Neurosci. 2024. PMID: 38601802 Free PMC article. No abstract available.
Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation.
Parmeggiani L, Stanzial F, Menna E, Boni E, Manzoni F, Benedicenti F, Pellegrin S. Parmeggiani L, et al. Among authors: pellegrin s. Epilepsy Behav Rep. 2023 Nov 14;24:100634. doi: 10.1016/j.ebr.2023.100634. eCollection 2023. Epilepsy Behav Rep. 2023. PMID: 38076278 Free PMC article.
Proceedings of the 14th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring.
Abramsky R, Acun C, Alt J, Aly H, Arad N, Baak LM, Bakalar D, Balasingham T, Bammler T, Benders MJNL, Benitez D, Boni E, Boylan G, Campbell E, Castri P, Chandrashekar P, Chavez-Valdez R, Chen M, Chiodin E, Comstock B, Damien J, Damien J, de Vries LS, de Vries L, Dickman J, Doucette L, Duckworth E, Duckworth E, Echeverria-Palacio C, El Jalbout R, El-Dib M, Elshibiny H, Flock D, Gallagher A, Gasperoni E, Glass H, Harteman JC, Harvey-Jones K, Hazan I, Heagerty P, Inder T, Jantzie L, Juul S, Karnati S, Kute N, Lacaille H, Lange F, Lemmers PMA, Liu W, Llaguno N, Magalhães M, Mambule I, Marandyuk B, Marks K, Martin LJ, Massaro A, Mathieson S, Mathieson S, McCaul MC, Meehan C, Meledin I, Menna E, Menzato F, Mintoft A, Mitra S, Nakimuli A, Nanyunya C, Norris G, Northington FJ, Numis A, O'Reilly JJ, Ortiz S, Padiyar S, Paquette N, Parmeggiani L, Patrizi S, Pavlidis E, Pellegrin S, Penn AA, Petitpas L, Pinchefsky E, Ponta A, Puthuraya JPS, Rais R, Robertson NJ, Rodrigues D, Salandin M, Salzbank J, Sánchez L, Schalij N, Serrano-Tabares C, Shany E, Staffler A, Steggerda S, Tachtsidis I, Tann C, Tataranno ML, Trabatti C, Tremblay J, Tromp S, Tucker K, Turnbill V, Vacher CM, van Bel F, v… See abstract for full author list ➔ Abramsky R, et al. Among authors: pellegrin s. J Neonatal Perinatal Med. 2023;16(s1):S33-S62. doi: 10.3233/NPM-239003. J Neonatal Perinatal Med. 2023. PMID: 37599542 No abstract available.
BNIP3L/NIX regulates both mitophagy and pexophagy.
Wilhelm LP, Zapata-Muñoz J, Villarejo-Zori B, Pellegrin S, Freire CM, Toye AM, Boya P, Ganley IG. Wilhelm LP, et al. Among authors: pellegrin s. EMBO J. 2022 Dec 15;41(24):e111115. doi: 10.15252/embj.2022111115. Epub 2022 Oct 10. EMBO J. 2022. PMID: 36215693 Free PMC article.
56 results