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A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: cantalupo g. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Cossu A, Santos JL, Galati G, Nikanorova M, Costa P, Mang Y, Silahtaroglu A, Rubboli G, Tommerup N, Dalla Bernardina B, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: cantalupo g. Neurol Sci. 2023 Jun;44(6):2173-2176. doi: 10.1007/s10072-023-06735-7. Epub 2023 Mar 13. Neurol Sci. 2023. PMID: 36913149
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Ictal semiology of gelastic seizures.
Mirandola L, Cantalupo G, d'Orsi G, Meletti S, Vaudano AE, Di Vito L, Vignoli A, Tassi L, Pelliccia V. Mirandola L, et al. Among authors: cantalupo g. Epilepsy Behav. 2023 Mar;140:109025. doi: 10.1016/j.yebeh.2022.109025. Epub 2023 Feb 11. Epilepsy Behav. 2023. PMID: 36780776 Review.
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, Cantalupo G, Salviati L, Tucci S, Pellegrini F, Molinaro G, Lupi F, Tonin P, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: cantalupo g. Mol Genet Metab Rep. 2020 Aug 5;24:100632. doi: 10.1016/j.ymgmr.2020.100632. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32793418 Free PMC article.
Sleep disordered breathing in children with achondroplasia.
Zaffanello M, Cantalupo G, Piacentini G, Gasperi E, Nosetti L, Cavarzere P, Ramaroli DA, Mittal A, Antoniazzi F. Zaffanello M, et al. Among authors: cantalupo g. World J Pediatr. 2017 Feb;13(1):8-14. doi: 10.1007/s12519-016-0051-9. Epub 2016 Oct 15. World J Pediatr. 2017. PMID: 27830579 Review.
125 results