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454 results

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Page 1
Seizure semiology of lesional frontal lobe epilepsies in children.
Battaglia D, Lettori D, Contaldo I, Veredice C, Sacco A, Vasco J, Martinelli D, Chieffo D, Tartaglione T, Colosimo C, Di Rocco C, Guzzetta F. Battaglia D, et al. Among authors: martinelli d. Neuropediatrics. 2007 Dec;38(6):287-91. doi: 10.1055/s-2008-1062705. Neuropediatrics. 2007. PMID: 18461504
Early neurodevelopmental characterization in children with cobalamin C/defect.
Ricci D, Martinelli D, Ferrantini G, Lucibello S, Gambardella M, Olivieri G, Chieffo D, Battaglia D, Diodato D, Iarossi G, Donati AM, Dionisi-Vici C, Battini R, Mercuri EM. Ricci D, et al. Among authors: martinelli d. J Inherit Metab Dis. 2020 Mar;43(2):367-374. doi: 10.1002/jimd.12171. Epub 2020 Jan 16. J Inherit Metab Dis. 2020. PMID: 31503356
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: martinelli d. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D, Di Nottia M, Ardissone A, Baruffini E, Nasca A, Legati A, Bellacchio E, Fagiolari G, Martinelli D, Fusco L, Battaglia D, Trani G, Versienti G, Marchet S, Torraco A, Rizza T, Verardo M, D'Amico A, Diodato D, Moroni I, Lamperti C, Petrini S, Moggio M, Goffrini P, Ghezzi D, Carrozzo R, Bertini E. Verrigni D, et al. Among authors: martinelli d, d amico a. Hum Mutat. 2019 May;40(5):601-618. doi: 10.1002/humu.23729. Epub 2019 Mar 9. Hum Mutat. 2019. PMID: 30801875 Free article.
Cobalamin C defect presenting as severe neonatal hyperammonemia.
Martinelli D, Dotta A, Massella L, Picca S, Di Pede A, Boenzi S, Aiello C, Dionisi-Vici C. Martinelli D, et al. Eur J Pediatr. 2011 Jul;170(7):887-90. doi: 10.1007/s00431-010-1371-8. Epub 2010 Dec 10. Eur J Pediatr. 2011. PMID: 21153419
454 results