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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.
Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy.
Sarisjulis N, Gamboni B, Plouin P, Kaminska A, Dulac O. Sarisjulis N, et al. Among authors: gamboni b. Arch Dis Child. 2000 Mar;82(3):226-30. doi: 10.1136/adc.82.3.226. Arch Dis Child. 2000. PMID: 10685926 Free PMC article.
[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 Free article. Spanish.
[Juvenile form of Sandhoff disease: first case reported in Argentina].
Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña CE, Oller Ramírez AM. Mugnaini J, et al. Among authors: gamboni b. Arch Argent Pediatr. 2017 Oct 1;115(5):e298-e301. doi: 10.5546/aap.2017.e298. Arch Argent Pediatr. 2017. PMID: 28895707 Free article. Spanish.
Infantile spams without hypsarrhythmia: a study of 16 cases.
Caraballo RH, Ruggieri V, Gonzalez G, Cersósimo R, Gamboni B, Rey A, Poveda JC, Dalla Bernardina B. Caraballo RH, et al. Among authors: gamboni b. Seizure. 2011 Apr;20(3):197-202. doi: 10.1016/j.seizure.2010.11.018. Epub 2010 Dec 16. Seizure. 2011. PMID: 21167750 Free article.
[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 Free article. Spanish.
Recommendations for the clinical management of children with refractory epilepsy receiving the ketogenic diet.
Alberti MJ, Agustinho A, Argumedo L, Armeno M, Blanco V, Bouquet C, Cabrera A, Caraballo R, Caramuta L, Cresta A, de Grandis ES, De Martini MG, Diez C, Dlugoszewski C, Escobal N, Ferrero H, Galicchio S, Gambarini V, Gamboni B, Guisande S, Hassan A, Matarrese P, Mestre G, Pesce L, Ríos V, Sosa P, Vaccarezza M, Viollaz R, Panico L. Alberti MJ, et al. Among authors: gamboni b. Arch Argent Pediatr. 2016 Feb;114(1):56-63. doi: 10.5546/aap.2016.eng.56. Epub 2015 Dec 23. Arch Argent Pediatr. 2016. PMID: 26914076 Free article. English, Spanish.
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