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Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Musto E, Gambardella ML, Perulli M, Quintiliani M, Veredice C, Verdolotti T, Berté G, Leoni C, Onesimo R, Pulitanò SM, Tartaglia M, Zampino G, Contaldo I, Battaglia DI. Musto E, et al. Among authors: onesimo r. Epilepsia Open. 2024 Feb;9(1):258-267. doi: 10.1002/epi4.12864. Epub 2023 Dec 20. Epilepsia Open. 2024. PMID: 37943120 Free PMC article.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Turco EM, et al. Among authors: onesimo r. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. Cell Death Dis. 2022. PMID: 36411275 Free PMC article.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: onesimo r. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R, Sforza E, Trevisan V, Leoni C, Giorgio V, Rigante D, Kuczynska EM, Proli F, Agazzi C, Limongelli D, Digilio MC, Dentici ML, Macchiaiolo M, Novelli A, Bartuli A, Sinibaldi L, Tartaglia M, Zampino G. Onesimo R, et al. Genes (Basel). 2023 Sep 22;14(10):1843. doi: 10.3390/genes14101843. Genes (Basel). 2023. PMID: 37895192 Free PMC article.
Measles-induced respiratory distress, air-leak and ARDS.
Piastra M, Onesimo R, De Luca D, Lancella L, Marzano L, De Rosa G, Pietrini D, Valentini P, Conti G. Piastra M, et al. Among authors: onesimo r. Eur J Clin Microbiol Infect Dis. 2010 Feb;29(2):181-5. doi: 10.1007/s10096-009-0838-x. Epub 2009 Dec 13. Eur J Clin Microbiol Infect Dis. 2010. PMID: 20012881 Free PMC article.
123 results