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Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Sousa M, Servidoni MF, Vinagre AM, Ramalho AS, Bonadia LC, Felício V, Ribeiro MA, Uliyakina I, Marson FA, Kmit A, Cardoso SR, Ribeiro JD, Bertuzzo CS, Sousa L, Kunzelmann K, Ribeiro AF, Amaral MD. Sousa M, et al. Among authors: bonadia lc. PLoS One. 2012;7(10):e47708. doi: 10.1371/journal.pone.0047708. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082198 Free PMC article.
TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.
Coutinho CA, Marson FA, Marcelino AR, Bonadia LC, Carlin MP, Ribeiro AF, Ribeiro JD, Bertuzzo CS. Coutinho CA, et al. Among authors: bonadia lc. Int J Mol Epidemiol Genet. 2014 May 29;5(2):87-99. eCollection 2014. Int J Mol Epidemiol Genet. 2014. PMID: 24959313 Free PMC article.
DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?
Pinto WBVR, Salomão RPA, Bergamasco NC, da Cunha Ribas G, da Graça FF, Lopes-Cendes I, Bonadia L, de Souza PVS, Bulle Oliveira AS, Saraiva-Pereira ML, Jardim LB, Tumas V, Junior WM, França MC Jr, Pedroso JL, Barsottini OGP, Teive HAG. Pinto WBVR, et al. Parkinsonism Relat Disord. 2021 Nov;92:67-71. doi: 10.1016/j.parkreldis.2021.10.004. Epub 2021 Oct 11. Parkinsonism Relat Disord. 2021. PMID: 34700111
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