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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: vaccarezza m. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Clinical and genetic spectrum of SCN2A-associated episodic ataxia.
Schwarz N, Bast T, Gaily E, Golla G, Gorman KM, Griffiths LR, Hahn A, Hukin J, King M, Korff C, Miranda MJ, Møller RS, Neubauer B, Smith RA, Smol T, Striano P, Stroud B, Vaccarezza M, Kluger G, Lerche H, Fazeli W. Schwarz N, et al. Among authors: vaccarezza m. Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7. Eur J Paediatr Neurol. 2019. PMID: 30928199
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.
Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR Jr, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC; Charlie Foundation; Matthew's Friends; Practice Committee of the Child Neurology Society. Kossoff EH, et al. Among authors: vaccarezza mm. Epilepsia Open. 2018 May 21;3(2):175-192. doi: 10.1002/epi4.12225. eCollection 2018 Jun. Epilepsia Open. 2018. PMID: 29881797 Free PMC article.
Epilepsia partialis continua associated with levamisole.
Aberastury MN, Silva WH, Vaccarezza MM, Maxit C, Agosta G. Aberastury MN, et al. Among authors: vaccarezza mm. Pediatr Neurol. 2011 May;44(5):385-8. doi: 10.1016/j.pediatrneurol.2010.11.020. Pediatr Neurol. 2011. PMID: 21481750
[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: vaccarezza m. Rev Neurol. 2014 Sep 1;59(5):213-23. Rev Neurol. 2014. PMID: 25156026 Free article. Spanish.
Use of ketogenic dietary therapy for drug-resistant epilepsy in early infancy.
Armeno M, Calligaris S, Gagiulo D, Cresta A, Vaccarezza MM, Diez CG, Alberti MJ, Viollaz R, Vilavedra F, Caraballo RH. Armeno M, et al. Among authors: vaccarezza mm. Epilepsia Open. 2024 Feb;9(1):138-149. doi: 10.1002/epi4.12836. Epub 2023 Nov 20. Epilepsia Open. 2024. PMID: 37759424 Free PMC article.
Myasthenia gravis in childhood.
Gamio S, Garcia-Erro M, Vaccarezza MM, Minella JA. Gamio S, et al. Among authors: vaccarezza mm. Binocul Vis Strabismus Q. 2004;19(4):223-31. Binocul Vis Strabismus Q. 2004. PMID: 15530139
Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients.
Caraballo R, Vaccarezza M, Cersósimo R, Rios V, Soraru A, Arroyo H, Agosta G, Escobal N, Demartini M, Maxit C, Cresta A, Marchione D, Carniello M, Paníco L. Caraballo R, et al. Among authors: vaccarezza m. Seizure. 2011 Oct;20(8):640-5. doi: 10.1016/j.seizure.2011.06.009. Epub 2011 Jul 16. Seizure. 2011. PMID: 21763159 Free article.
115 results