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Page 1
Home-based, computer-assisted cognitive rehabilitation for attention in pediatric onset multiple sclerosis: a randomized, multicenter pilot study.
Masciulli C, Portaccio E, Goretti B, Niccolai C, Simone M, Viterbo RG, Zaffaroni M, Pippolo L, Cocco E, Fenu G, Carta E, Falautano M, Celico C, Pardini M, Mancardi GL, Guerrini R, Melani F, Giovannelli F, Rocca M, Iaffaldano P, Tacchino A, Zaratin P, Filippi M, Amato MP. Masciulli C, et al. Among authors: guerrini r. Neurol Sci. 2024 Nov 25. doi: 10.1007/s10072-024-07886-x. Online ahead of print. Neurol Sci. 2024. PMID: 39581901
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Della Vecchia S, Tessa A, Dosi C, Baldacci J, Pasquariello R, Antenora A, Astrea G, Bassi MT, Battini R, Casali C, Ciof E, Conti G, De Michele G, Ferrari AR, Filla A, Fiorillo C, Fusco C, Gallone S, Germiniasi C, Guerrini R, Haggiag S, Lopergolo D, Martinuzzi A, Melani F, Mignarri A, Panzeri E, Pini A, Pinto AM, Pochiero F, Primiano G, Procopio E, Renieri A, Romaniello R, Sancricca C, Servidei S, Spagnoli C, Ticci C, Rubegni A, Santorelli FM. Della Vecchia S, et al. Among authors: guerrini r. J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2. J Neurol. 2023. PMID: 36795150 No abstract available.
Unilateral deep brain stimulation (DBS) of nucleus ventralis intermedius thalami (Vim) for the treatment of post-traumatic tremor in children: a multicentre experience.
Peraio S, Mantovani G, Araceli T, Mongardi L, Noris A, Fino E, Formica F, Piccinini L, Melani F, Lenge M, Scalise R, Battini R, Di Rita A, D'Incerti L, Appleton T, Cavallo MA, Guerrini R, Giordano F. Peraio S, et al. Among authors: guerrini r. Childs Nerv Syst. 2024 Aug;40(8):2457-2464. doi: 10.1007/s00381-024-06380-1. Epub 2024 Apr 4. Childs Nerv Syst. 2024. PMID: 38573550
Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector.
Tonin R, Feo F, Falliano S, Ferri L, Giunti L, Calamai M, Procopio E, Mari F, Conti V, Fanelli I, Bambi F, Guerrini R, Morrone A. Tonin R, et al. Among authors: guerrini r. Stem Cell Res. 2023 Dec;73:103235. doi: 10.1016/j.scr.2023.103235. Epub 2023 Oct 21. Stem Cell Res. 2023. PMID: 38323760 Free article.
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL Jr, Goldberg EM. Clatot J, et al. Among authors: guerrini r. Epilepsia. 2024 Dec 21. doi: 10.1111/epi.18234. Online ahead of print. Epilepsia. 2024. PMID: 39707911
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: guerrini r. J Med Genet. 2024 Nov 28:jmg-2024-110328. doi: 10.1136/jmg-2024-110328. Online ahead of print. J Med Genet. 2024. PMID: 39613335
Enhanced anticancer effect of thymidylate synthase dimer disrupters by promoting intracellular accumulation.
Marverti G, Moschella MG, Belardo A, Lamesta M, Mercanile G, Tagliazucchi L, Aiello D, Venturelli A, Illuminati D, Guerrini R, Losi L, Ponterini G, Costi MP, D'Arca D. Marverti G, et al. Among authors: guerrini r. Front Pharmacol. 2024 Nov 11;15:1477318. doi: 10.3389/fphar.2024.1477318. eCollection 2024. Front Pharmacol. 2024. PMID: 39611169 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
1,105 results