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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: gamboni b. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Panayiotopoulos syndrome: Unusual clinical manifestations.
Semprino M, Galicchio S, Espeche A, Cersosimo R, Chacon S, Gamboni B, Adi J, Fasulo L, Fortini S, Cachia P, Gallo A, Caraballo RH. Semprino M, et al. Among authors: gamboni b. Epilepsy Behav. 2022 Mar;128:108552. doi: 10.1016/j.yebeh.2022.108552. Epub 2022 Jan 18. Epilepsy Behav. 2022. PMID: 35063695
[National consensus on the ketogenic diet].
Armeno M, Caraballo R, Vaccarezza M, Alberti MJ, Ríos V, Galicchio S, de Grandis ES, Mestre G, Escobal N, Matarrese P, Viollaz R, Agostinho A, Díez C, Cresta A, Cabrera A, Blanco V, Ferrero H, Gambarini V, Sosa P, Bouquet C, Caramuta L, Guisande S, Gamboni B, Hassan A, Pesce L, Argumedo L, Dlugoszewski C, DeMartini MG, Panico L. Armeno M, et al. Among authors: gamboni b. Rev Neurol. 2014 Sep 1;59(5):213-23. Rev Neurol. 2014. PMID: 25156026 Spanish.
[National consensus on the modified Atkins diet].
Vaccarezza M, Agustinho A, Alberti MJ, Argumedo L, Armeno M, Blanco V, Bouquet C, Cabrera A, Caraballo R, Caramuta L, Cresta A, de Grandis ES, DeMartini MG, Diez C, Diz M, Dlugoszewski C, Escobal N, Ferrero H, Galicchio S, Gambarini V, Gamboni B, Gonzalez L, Guisande S, Hassan A, Matarrese P, Mestre G, Pesce L, Rios V, Semprino M, Sosa P, Toma M, Viollaz R, Panico L. Vaccarezza M, et al. Among authors: gamboni b. Rev Neurol. 2016 Apr 16;62(8):371-6. Rev Neurol. 2016. PMID: 27064917 Spanish.
19 results