Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Luciana C Bonadia"'
Autor:
Marisa Sousa, Maria F Servidoni, Adriana M Vinagre, Anabela S Ramalho, Luciana C Bonadia, Verónica Felício, Maria A Ribeiro, Inna Uliyakina, Fernando A Marson, Arthur Kmit, Silvia R Cardoso, José D Ribeiro, Carmen S Bertuzzo, Lisete Sousa, Karl Kunzelmann, Antônio F Ribeiro, Margarida D Amaral
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e47708 (2012)
BackgroundCystic Fibrosis (CF) is caused by ∼1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl(-)) channel expressed in several epithelia. Clinical features are dominated by respira
Externí odkaz:
https://doaj.org/article/2860c930e59242669d87fa4093d5ef95
Autor:
Marcella B. Baptista MSc, Daniel Z. Scherrer PhD, Luciana C. Bonadia PhD, Carlos E. Steiner MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000). In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed
Externí odkaz:
https://doaj.org/article/631f035b71b341689743f8a998ea5a89
Autor:
Marcondes C. França Jr, Vanessa E. Emmel, Anelyssa eD'Abreu, Claudia Vianna Maurer-Morelli, Rodrigo eSecolin, Luciana C. Bonadia, Marilza S. Silva, Anamarli eNucci, Laura B. Jardim, Maria Luiza eSaraiva-Pereira, Wilson eMarques Jr, Henry ePaulson, Iscia eLopes-Cendes
Publikováno v:
Frontiers in Neurology, Vol 3 (2012)
Background: Age at onset (AO) in Machado-Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates that the normal ATXN3 allele an
Externí odkaz:
https://doaj.org/article/0d47f8a0ad33429ebec905f6151c59c4