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Year Number of Results
2009 1
2010 1
2011 1
2013 2
2014 5
2015 5
2016 4
2017 6
2018 3
2019 7
2020 22
2021 16
2022 11
2023 18
2024 8

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93 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.
Post-operative benefits of animal-assisted therapy in pediatric surgery: a randomised study.
Calcaterra V, Veggiotti P, Palestrini C, De Giorgis V, Raschetti R, Tumminelli M, Mencherini S, Papotti F, Klersy C, Albertini R, Ostuni S, Pelizzo G. Calcaterra V, et al. Among authors: de giorgis v. PLoS One. 2015 Jun 3;10(6):e0125813. doi: 10.1371/journal.pone.0125813. eCollection 2015. PLoS One. 2015. PMID: 26039494 Free PMC article. Clinical Trial.
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: de giorgis v. 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.
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.
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. 2023 Nov 6:e14073. doi: 10.1111/jsr.14073. Online ahead of print. J Sleep Res. 2023. PMID: 37932966 Review.
Toward responsible clinical n-of-1 strategies for rare diseases.
Defelippe VM, J M W van Thiel G, Otte WM, Schutgens REG, Stunnenberg B, Cross HJ, O'Callaghan F, De Giorgis V, Jansen FE, Perucca E, Brilstra EH, Braun KPJ. Defelippe VM, et al. Among authors: de giorgis v. Drug Discov Today. 2023 Oct;28(10):103688. doi: 10.1016/j.drudis.2023.103688. Epub 2023 Jun 24. Drug Discov Today. 2023. PMID: 37356616 Free article. Review.
An Italian consensus on the management of Lennox-Gastaut syndrome.
Riva A, Coppola A, Bonaventura CD, Elia M, Ferlazzo E, Gobbi G, Marini C, Meletti S, Romeo A, Santoro K, Verrotti A, Capovilla G, Striano P; Italian LGS Delphi Group. Riva A, et al. Seizure. 2022 Oct;101:134-140. doi: 10.1016/j.seizure.2022.07.004. Epub 2022 Jul 15. Seizure. 2022. PMID: 35981474 Free article.
How to Manage Electrical Status Epilepticus in Sleep.
Veggiotti P, Pera MC, Olivotto S, De Giorgis V. Veggiotti P, et al. Among authors: de giorgis v. J Clin Neurophysiol. 2016 Feb;33(1):3-9. doi: 10.1097/WNP.0000000000000235. J Clin Neurophysiol. 2016. PMID: 26840869 Review.
93 results