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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. Pereira FS, et al. Cerebellum. 2015 Dec;14(6):728-30. doi: 10.1007/s12311-015-0666-8. Cerebellum. 2015. PMID: 25869926 No abstract available.
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. Castilhos RM, et al. Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24102565
The Brazilian consensus on the management of Pompe disease.
Llerena JC Jr, Horovitz DM, Marie SK, Porta G, Giugliani R, Rojas MV, Martins AM; Brazilian Network for Studies in Pompe Disease (ReBrPOM). Llerena JC Jr, et al. J Pediatr. 2009 Oct;155(4 Suppl):S47-56. doi: 10.1016/j.jpeds.2009.07.006. J Pediatr. 2009. PMID: 19765410 Review. No abstract available.