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21 results

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Page 1
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.
Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).
Della Marca G, Leoni C, Dittoni S, Battaglia D, Losurdo A, Testani E, Colicchio S, Gnoni V, Gambardella ML, Mariotti P, Alfieri P, Tartaglia M, Zampino G. Della Marca G, et al. Among authors: gambardella ml. J Clin Neurophysiol. 2011 Jun;28(3):314-8. doi: 10.1097/WNP.0b013e31821c3ad5. J Clin Neurophysiol. 2011. PMID: 21633259
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
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review.
Schirinzi T, Garone G, Travaglini L, Vasco G, Galosi S, Rios L, Castiglioni C, Barassi C, Battaglia D, Gambardella ML, Cantonetti L, Graziola F, Marras CE, Castelli E, Bertini E, Capuano A, Leuzzi V. Schirinzi T, et al. Among authors: gambardella ml. Parkinsonism Relat Disord. 2019 Apr;61:19-25. doi: 10.1016/j.parkreldis.2018.11.019. Epub 2018 Nov 16. Parkinsonism Relat Disord. 2019. PMID: 30642806 Review.
Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.
Calandrelli R, Pilato F, Panfili M, Battaglia D, Gambardella ML, Colosimo C. Calandrelli R, et al. Among authors: gambardella ml. Neuroradiology. 2022 Jan;64(1):185-195. doi: 10.1007/s00234-021-02769-w. Epub 2021 Jul 26. Neuroradiology. 2022. PMID: 34309696
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.
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.
Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation.
Perulli M, Cicala G, Turrini I, Musto E, Quintiliani M, Gambardella ML, Pulitanò SM, Bompard S, Staccioli S, Carmillo L, Di Sante G, Ria F, Veredice C, Contaldo I, Battaglia D. Perulli M, et al. Among authors: gambardella ml. Epilepsy Behav Rep. 2022 Feb 22;18:100531. doi: 10.1016/j.ebr.2022.100531. eCollection 2022. Epilepsy Behav Rep. 2022. PMID: 35356746 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.
21 results