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A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: cordelli dm. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, Demuth L, Cordelli DM, Biasucci G, Frattini D, Fusco C. Rizzi S, et al. Among authors: cordelli dm. Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828. Genes (Basel). 2023. PMID: 37761968 Free PMC article.
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Nosadini M, Granata T, Matricardi S, Freri E, Ragona F, Papetti L, Suppiej A, Valeriani M, Sartori S; Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis. Nosadini M, et al. Dev Med Child Neurol. 2019 Sep;61(9):1101-1107. doi: 10.1111/dmcn.14267. Epub 2019 Jun 7. Dev Med Child Neurol. 2019. PMID: 31175679 Free article.
Bathing epilepsy: report of two Caucasian cases.
Franzoni E, Gentile V, Grosso S, Brunetto D, Cordelli DM, Balestri P. Franzoni E, et al. Among authors: cordelli dm. Epileptic Disord. 2010 Mar;12(1):88-90. doi: 10.1684/epd.2010.0295. Epub 2010 Feb 26. Epileptic Disord. 2010. PMID: 20185394 Free article.
142 results