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302 results

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Page 1
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group; Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Ricos MG, et al. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Vecchi M, Barba C, De Carlo D, Stivala M, Guerrini R, Albamonte E, Ranalli D, Battaglia D, Lunardi G, Boniver C, Piccolo B, Pisani F, Cantalupo G, Nieddu G, Casellato S, Cappanera S, Cesaroni E, Zamponi N, Serino D, Fusco L, Iodice A, Palestra F, Giordano L, Freri E, De Giorgi I, Ragona F, Granata T, Fiocchi I, Bova SM, Mastrangelo M, Verrotti A, Matricardi S, Fontana E, Caputo D, Darra F, Dalla Bernardina B, Beccaria F, Capovilla G, Baglietto MP, Gagliardi A, Vignoli A, Canevini MP, Perissinotto E, Francione S. Vecchi M, et al. Among authors: barba c. Epilepsia. 2016 Nov;57(11):1808-1816. doi: 10.1111/epi.13574. Epub 2016 Oct 20. Epilepsia. 2016. PMID: 27762437 Free article.
Epilepsy in ring chromosome 20 syndrome.
Vignoli A, Bisulli F, Darra F, Mastrangelo M, Barba C, Giordano L, Turner K, Zambrelli E, Chiesa V, Bova S, Fiocchi I, Peron A, Naldi I, Milito G, Licchetta L, Tinuper P, Guerrini R, Dalla Bernardina B, Canevini MP. Vignoli A, et al. Among authors: barba c. Epilepsy Res. 2016 Dec;128:83-93. doi: 10.1016/j.eplepsyres.2016.10.004. Epub 2016 Oct 24. Epilepsy Res. 2016. PMID: 27816898
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D, Chiti L, Rutigliano D, Bianchini C, Virdò S, De Vita D, Bigoni S, Barba C, Mari F, Montomoli M, Pisano T, Rosati A; Clinical Study Group; Guerrini R. Parrini E, et al. Among authors: barba c. Hum Mutat. 2017 Feb;38(2):216-225. doi: 10.1002/humu.23149. Epub 2016 Dec 9. Hum Mutat. 2017. PMID: 27864847
Unilobar surgery for symptomatic epileptic spasms.
Barba C, Mai R, Grisotto L, Gozzo F, Pellacani S, Tassi L, Francione S, Giordano F, Cardinale F, Guerrini R. Barba C, et al. Ann Clin Transl Neurol. 2016 Nov 19;4(1):36-45. doi: 10.1002/acn3.373. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078313 Free PMC article.
Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors": A retrospective nationwide Italian study.
Giulioni M, Marucci G, Pelliccia V, Gozzo F, Barba C, Didato G, Villani F, Di Gennaro G, Quarato PP, Esposito V, Consales A, Martinoni M, Vornetti G, Zenesini C, Efisio Marras C, Specchio N, De Palma L, Rocchi R, Giordano F, Tringali G, Nozza P, Colicchio G, Rubboli G, Lo Russo G, Guerrini R, Tinuper P, Cardinale F, Cossu M; Commission for Epilepsy Surgery of the Italian League Against Epilepsy. Giulioni M, et al. Among authors: barba c. Epilepsia. 2017 Nov;58(11):1832-1841. doi: 10.1111/epi.13866. Epub 2017 Aug 14. Epilepsia. 2017. PMID: 28804898
302 results