Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis

por Bacalhau, Mafalda, Camargo, Mariana, Magalhães-Ghiotto, Grace A. V., Drumond, Sybelle, Castelletti, Carlos Henrique M., Lopes-Pacheco, Miquéias
Publicado 2023

Additive Potentiation of R334W-CFTR Function by Novel Small Molecules

por Bacalhau, Mafalda, Ferreira, Filipa C., Silva, Iris A. L., Buarque, Camilla D., Amaral, Margarida D., Lopes-Pacheco, Miquéias
Publicado 2023

Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A

por Lopes-Pacheco, Miquéias, Bacalhau, Mafalda, Ramalho, Sofia S., Silva, Iris A. L., Ferreira, Filipa C., Carlile, Graeme W., Thomas, David Y., Farinha, Carlos M., Hanrahan, John W., Amaral, Margarida D.
Publicado 2022

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

por Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., Grazina, Manuela
Publicado 2018