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Population-specific genetic modification of Huntington's disease in Venezuela.
Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: jardim lb. PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PLoS Genet. 2018. PMID: 29750799 Free PMC article.
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. Among authors: jardim lb. Clin Genet. 2014 Oct;86(4):373-7. doi: 10.1111/cge.12283. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24102565
Huntington's disease-like disorders in Latin America and the Caribbean.
Walker RH, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V. Walker RH, et al. Among authors: jardim lb. Parkinsonism Relat Disord. 2018 Aug;53:10-20. doi: 10.1016/j.parkreldis.2018.05.021. Epub 2018 May 21. Parkinsonism Relat Disord. 2018. PMID: 29853295 Review.
Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions.
Castilhos RM, Santos JAD, Augustin MC, Pedroso JL, Barsottini O, Saba R, Ferraz HB, Godeiro Junior C, Vargas FR, Salarini DZ, Furtado GV, Polese-Bonatto M, Rodrigues LP, Sena LS, Saraiva-Pereira ML, Jardim LB; RedeNeurogenética. Castilhos RM, et al. Among authors: jardim lb. Genet Mol Biol. 2019 Apr-Jun;42(2):329-336. doi: 10.1590/1678-4685-GMB-2018-0032. Epub 2019 Jun 27. Genet Mol Biol. 2019. PMID: 31259362 Free PMC article.
Free carnitine and branched chain amino acids are not good biomarkers in Huntington's disease.
Castilhos RM, Augustin MC, Santos JAD, Pedroso JL, Barsottini O, Saba R, Ferraz HB, Vargas FR, Furtado GV, Polese-Bonatto M, Rodrigues LP, Sena LS, Vargas CR, Saraiva-Pereira ML, Jardim LB, Neurogenética R. Castilhos RM, et al. Among authors: jardim lb. Arq Neuropsiquiatr. 2020 Feb;78(2):81-87. doi: 10.1590/0004-282X20190152. Arq Neuropsiquiatr. 2020. PMID: 32159721 Free article.
176 results