Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

by Marcella B. Baptista MSc, Daniel Z. Scherrer PhD, Luciana C. Bonadia PhD, Carlos E. Steiner MD, PhD
Published 2016-04-01

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

by 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
Published 2012-01-01

Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado-Joseph Disease

by 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
Published 2012-11-01