Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

por Brasil, Sandra, Pascoal, Carlota, Francisco, Rita, dos Reis Ferreira, Vanessa, A. Videira, Paula, Valadão, Gonçalo
Publicado 2019

Congenital disorders of glycosylation (CDG): state of the art in 2022

por Francisco, Rita, Brasil, Sandra, Poejo, Joana, Jaeken, Jaak, Pascoal, Carlota, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2023

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)

por Francisco, Rita, Brasil, Sandra, Pascoal, Carlota, Jaeken, Jaak, Liddle, Merell, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2022

CDG Therapies: From Bench to Bedside

por Brasil, Sandra, Pascoal, Carlota, Francisco, Rita, Marques-da-Silva, Dorinda, Andreotti, Giuseppina, Videira, Paula A., Morava, Eva, Jaeken, Jaak, dos Reis Ferreira, Vanessa
Publicado 2018

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

por Pascoal, Carlota, Brasil, Sandra, Francisco, Rita, Marques-da-Silva, Dorinda, Rafalko, Agnes, Jaeken, Jaak, Videira, Paula A., Barros, Luísa, dos Reis Ferreira, Vanessa
Publicado 2018

Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

por Monticelli, Maria, Francisco, Rita, Brasil, Sandra, Marques-da-Silva, Dorinda, Rijoff, Tatiana, Pascoal, Carlota, Jaeken, Jaak, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2022

Sialyl Lewis(X/A) and Cytokeratin Crosstalk in Triple Negative Breast Cancer

por Pascoal, Carlota, Carrascal, Mylène A., Barreira, Daniela F., Lourenço, Rita A., Granjo, Pedro, Grosso, Ana R., Borralho, Paula, Braga, Sofia, Videira, Paula A.
Publicado 2023

Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK1/2 and p38 MAPK activation

por Carrascal, Mylène A., Silva, Mariana, Ramalho, José S., Pen, Cláudia, Martins, Manuela, Pascoal, Carlota, Amaral, Constança, Serrano, Isabel, Oliveira, Maria José, Sackstein, Robert, Videira, Paula A.
Publicado 2018

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation

por Francisco, Rita, Brasil, Sandra, Pascoal, Carlota, Edmondson, Andrew C., Jaeken, Jaak, Videira, Paula A., de Freitas, Cláudia, Ferreira, Vanessa dos Reis, Marques-da-Silva, Dorinda
Publicado 2022

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach

por Francisco, Rita, Pascoal, Carlota, Marques-da-Silva, Dorinda, Brasil, Sandra, Pimentel-Santos, Fernando M., Altassan, Ruqaiah, Jaeken, Jaak, Grosso, Ana Rita, dos Reis Ferreira, Vanessa, Videira, Paula A.
Publicado 2020

A Participatory Framework for Plain Language Clinical Management Guideline Development

por Francisco, Rita, Alves, Susana, Gomes, Catarina, Granjo, Pedro, Pascoal, Carlota, Brasil, Sandra, Neves, Alice, Santos, Inês, Miller, Andrea, Krasnewich, Donna, Morava, Eva, Lam, Christina, Jaeken, Jaak, Videira, Paula A., dos Reis Ferreira, Vanessa
Publicado 2022

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)

por Brasil, Sandra, Allocca, Mariateresa, Magrinho, Salvador C. M., Santos, Inês, Raposo, Madalena, Francisco, Rita, Pascoal, Carlota, Martins, Tiago, Videira, Paula A., Pereira, Florbela, Andreotti, Giuseppina, Jaeken, Jaak, Kantautas, Kristin A., Perlstein, Ethan O., Ferreira, Vanessa dos Reis
Publicado 2022

A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases

por Falcão, Marta, Allocca, Mariateresa, Rodrigues, Ana Sofia, Granjo, Pedro, Francisco, Rita, Pascoal, Carlota, Rossi, Maria Grazia, Marques-da-Silva, Dorinda, Magrinho, Salvador C. M., Jaeken, Jaak, Castro, Larisa Aragon, de Freitas, Cláudia, Videira, Paula A., de Andrés-Aguayo, Luísa, dos Reis Ferreira, Vanessa
Publicado 2023