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Page 1
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Alfieri P, et al. Among authors: gambardella ml. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458522
Disorders of early language development in Dravet syndrome.
Chieffo D, Battaglia D, Lucibello S, Gambardella ML, Moriconi F, Ferrantini G, Leo G, Dravet C, Mercuri E, Guzzetta F. Chieffo D, et al. Among authors: gambardella ml. Epilepsy Behav. 2016 Jan;54:30-3. doi: 10.1016/j.yebeh.2015.10.027. Epub 2015 Nov 26. Epilepsy Behav. 2016. PMID: 26630186
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: gambardella ml. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Kenney-Jung DL, Rogers DJ, Kroening SJ, Zatkalik AL, Whitmarsh AE, Roberts AE, Zenker M, Gambardella ML, Contaldo I, Leoni C, Onesimo R, Zampino G, Tartaglia M, Battaglia DI, Pierpont EI. Kenney-Jung DL, et al. Among authors: gambardella ml. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):501-509. doi: 10.1002/ajmg.c.32022. Epub 2022 Nov 29. Am J Med Genet C Semin Med Genet. 2022. PMID: 36448195 Free PMC article.
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: gambardella ml. 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.
Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk.
Perulli M, Battista A, Sivo S, Turrini I, Musto E, Quintiliani M, Gambardella ML, Contaldo I, Veredice C, Mercuri EM, Lanza GA, Dravet C, Delogu AB, Battaglia DI. Perulli M, et al. Among authors: gambardella ml. Seizure. 2022 Jan;94:129-135. doi: 10.1016/j.seizure.2021.11.023. Epub 2021 Nov 27. Seizure. 2022. PMID: 34896816 Free article.
Cortical Visual Impairment in CDKL5 Deficiency Disorder.
Quintiliani M, Ricci D, Petrianni M, Leone S, Orazi L, Amore F, Gambardella ML, Contaldo I, Veredice C, Perulli M, Musto E, Mercuri EM, Battaglia DI. Quintiliani M, et al. Among authors: gambardella ml. Front Neurol. 2022 Jan 26;12:805745. doi: 10.3389/fneur.2021.805745. eCollection 2021. Front Neurol. 2022. PMID: 35153983 Free PMC article.
Visual Function in Children with GNAO1-Related Encephalopathy.
Gambardella ML, Pede E, Orazi L, Leone S, Quintiliani M, Amorelli GM, Petrianni M, Galanti M, Amore F, Musto E, Perulli M, Contaldo I, Veredice C, Mercuri EM, Battaglia DI, Ricci D. Gambardella ML, et al. Genes (Basel). 2023 Feb 22;14(3):544. doi: 10.3390/genes14030544. Genes (Basel). 2023. PMID: 36980817 Free PMC article.
25 results