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Year Number of Results
2009 1
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2014 5
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2019 7
2020 21
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2023 21
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129 results

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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: de giorgis v. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Among authors: de giorgis v. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. Among authors: de giorgis v. J Med Genet. 2024 Dec 31;62(1):25-31. doi: 10.1136/jmg-2024-110328. J Med Genet. 2024. PMID: 39613335 Free PMC article.
Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.
Cerulli Irelli E, Mazzeo A, Caraballo RH, Perulli M, Moloney PB, Peña-Ceballos J, Rubino M, Mieszczanek KM, Santangelo A, Licchetta L, De Giorgis V, Reyes Valenzuela G, Casellato S, Cesaroni E, Operto FF, Domínguez-Carral J, Ramírez-Camacho A, Ferretti A, Santangelo G, Aledo-Serrano A, Rüegger A, Mancardi MM, Prato G, Riva A, Bergonzini L, Cordelli DM, Bonanni P, Bisulli F, Di Gennaro G, Matricardi S, Striano P, Delanty N, Marini C, Battaglia D, Di Bonaventura C, Ramantani G, Gardella E; GENE‐CBD Study Group; Orsini A, Coppola A. Cerulli Irelli E, et al. Among authors: de giorgis v. Epilepsia. 2025 Jul;66(7):2253-2267. doi: 10.1111/epi.18378. Epub 2025 Mar 24. Epilepsia. 2025. PMID: 40126049 Free PMC article.
GLUT1DS focus on dysarthria.
Corradini M, Zanaboni MP, Varesio C, Celario M, Capelli E, Giudice C, Quaranta CA, Mensi MM, Pasca L, De Giorgis V. Corradini M, et al. Among authors: de giorgis v. Eur J Paediatr Neurol. 2024 Jul;51:62-70. doi: 10.1016/j.ejpn.2024.05.010. Epub 2024 May 29. Eur J Paediatr Neurol. 2024. PMID: 38851145
The effects of ketogenic dietary therapies on sleep: A scoping review.
Pasca L, Quaranta CA, Grumi S, Zanaboni MP, Tagliabue A, Guglielmetti M, Vitali H, Capriglia E, Varesio C, Toni F, Nobili L, Terzaghi M, De Giorgis V. Pasca L, et al. Among authors: de giorgis v. J Sleep Res. 2024 Aug;33(4):e14073. doi: 10.1111/jsr.14073. Epub 2023 Nov 6. J Sleep Res. 2024. PMID: 37932966
129 results