A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus

por Costa, Inês P. D., Almeida, Beatriz C., Sequeiros, Jorge, Amorim, António, Martins, Sandra
Publicado 2019

Fasting influences aquaporin expression, water transport and adipocyte metabolism in the peritoneal membrane

por Costa, Ines P D, Hautem, Nicolas, Schiano, Gugliemo, Uchida, Shinichi, Nishino, Tomoya, Devuyst, Olivier
Publicado 2022

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

por Martins, Sandra, Yahia, Ashraf, Costa, Inês P. D., Siddig, Hassab E., Abubaker, Rayan, Koko, Mahmoud, Corral-Juan, Marc, Matilla-Dueñas, Antoni, Brice, Alexis, Durr, Alexandra, Leguern, Eric, Ranum, Laura P. W., Amorim, António, Elsayed, Liena E. O., Stevanin, Giovanni, Sequeiros, Jorge
Publicado 2023