Publicações
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.
Gheno TC, Furtado GV, Saute JAM, Donis KC, Fontanari AMV, Emmel VE, Pedroso JL, Barsottini O, Godeiro-Junior C, van der Linden H, Ternes Pereira E, Cintra VP, Marques W Jr, de Castilhos RM, Alonso I, Sequeiros J, Cornejo-Olivas M, Mazzetti P, Leotti VB, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica.
Eur J Neurol. 2017 Jul;24(7):892-e36. doi: 10.1111/ene.13281. Epub 2017 May 31.
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.
da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D’Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, Torman VL, Camey S, Portela LV, Jardim LB.
Cerebellum. 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z.
Genetic aspects of Huntington’s disease in Latin America. A systematic review.
Castilhos RM, Augustin MC, Santos JA, Perandones C, Saraiva-Pereira ML, Jardim LB; Rede Neurogenética.
Clin Genet. 2016 Mar;89(3):295-303. doi: 10.1111/cge.12641. Epub 2015 Aug 13.
ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
Pereira FS, Monte TL, Locks-Coelho LD, Silva AS, Barsottini O, Pedroso JL, Cornejo-Olivas M, Mazzetti P, Godeiro C, Vargas FR, Lima MA, van der Linden H Jr, Toralles MB, Medeiros PF, Ribeiro E, Braga-Neto P, Salarini D, Castilhos RM, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica.
Cerebellum. 2015 Dec;14(6):728-30. doi: 10.1007/s12311-015-0666-8.
Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial.
Saute JA, Rieder CR, Castilhos RM, Monte TL, Schumacher-Schuh AF, Donis KC, D’Ávila R, Souza GN, Russo AD, Furtado GV, Gheno TC, Souza DO, Saraiva-Pereira ML, Portela LV, Camey S, Torman VB, Jardim LB.
J Neurol Sci. 2015 Nov 15;358(1-2):72-6. doi: 10.1016/j.jns.2015.08.019. Epub 2015 Aug 14.
Huntington disease and Huntington disease-like in a case series from Brazil.
Castilhos RM, Souza AF, Furtado GV, Gheno TC, Silva AL, Vargas FR, Lima MA, Barsottini O, Pedroso JL, Godeiro C Jr, Salarini D, Pereira ET, Lin K, Toralles MB, Saute JA, Rieder CR, Quintas M, Sequeiros J, Alonso I, Saraiva-Pereira ML, Jardim LB.
Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17.
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.
Saute JA, de Castilhos RM, Monte TL, Schumacher-Schuh AF, Donis KC, D’Ávila R, Souza GN, Russo AD, Furtado GV, Gheno TC, de Souza DO, Portela LV, Saraiva-Pereira ML, Camey SA, Torman VB, de Mello Rieder CR, Jardim LB.
Mov Disord. 2014 Apr;29(4):568-73. doi: 10.1002/mds.25803. Epub 2014 Jan 7.
Spinocerebellar ataxias in Brazil–frequencies and modulating effects of related genes.
de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, Barsottini O, Pedroso JL, Salarini DZ, Vargas FR, de Lima MA, Godeiro C, Santana-da-Silva LC, Toralles MB, Santos S, van der Linden H Jr, Wanderley HY, de Medeiros PF, Pereira ET, Ribeiro E, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica.
Cerebellum. 2014 Feb;13(1):17-28. doi: 10.1007/s12311-013-0510-y.
Severity score system for progressive myelopathy: development and validation of a new clinical scale.
Castilhos RM, Blank D, Netto CB, Souza CF, Fernandes LN, Schwartz IV, Giugliani R, Jardim LB.
Braz J Med Biol Res. 2012 Jul;45(7):565-72. doi: 10.1590/s0100-879×2012007500072. Epub 2012 May 10.
Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.
Rodrigues CS, de Oliveira VZ, Camargo G, Osório CM, de Castilhos RM, Saraiva-Pereira ML, Schuler-Faccini L, Jardim LB.
J Genet Couns. 2012 Feb;21(1):101-12. doi: 10.1007/s10897-011-9383-8. Epub 2011 Jun 30.
Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB.
PLoS One. 2012;7(3):e34195. doi: 10.1371/journal.pone.0034195. Epub 2012 Mar 29.