Sandra Dolores Arduim Brasil
AuthID: R-000-SY6
1
TITLE: Congenital disorders of glycosylation (CDG): state of the art in 2022 Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
AUTHORS: Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: 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) Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, Claudia ; Ferreira, Vanessa dos Reis; Marques da Silva, Dorinda;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 11
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, Claudia ; Ferreira, Vanessa dos Reis; Marques da Silva, Dorinda;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 11
4
TITLE: Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective Full Text
AUTHORS: Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques da Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
AUTHORS: Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques da Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG) Full Text
AUTHORS: Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C. M.; Santos, Ines; 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;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 15
AUTHORS: Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C. M.; Santos, Ines; 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;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 15
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: A Participatory Framework for Plain Language Clinical Management Guideline Development Full Text
AUTHORS: Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Ines; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 20
AUTHORS: Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Ines; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 20
INDEXED IN: Scopus WOS
Scopus WOS7
TITLE: Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases
AUTHORS: Brasil, S; Neves, CJ; Rijoff, T; Falcao, M; Valadao, G; Videira, PA; Ferreira, VD;
PUBLISHED: 2021, SOURCE: FRONTIERS IN MOLECULAR BIOSCIENCES, VOLUME: 8
AUTHORS: Brasil, S; Neves, CJ; Rijoff, T; Falcao, M; Valadao, G; Videira, PA; Ferreira, VD;
PUBLISHED: 2021, SOURCE: FRONTIERS IN MOLECULAR BIOSCIENCES, VOLUME: 8
INDEXED IN: Scopus WOS
Scopus WOS8
TITLE: New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
AUTHORS: Rita Francisco; Carlota Pascoal; Dorinda Marques da Silva; Sandra Brasil; Fernando M Pimentel Santos; Ruqaiah Altassan; Jaak Jaeken; Ana Rita Grosso; Vanessa D dos Reis Ferreira; Paula A Videira;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 7
AUTHORS: Rita Francisco; Carlota Pascoal; Dorinda Marques da Silva; Sandra Brasil; Fernando M Pimentel Santos; Ruqaiah Altassan; Jaak Jaeken; Ana Rita Grosso; Vanessa D dos Reis Ferreira; Paula A Videira;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 7
INDEXED IN: WOS
WOS9
TITLE: International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management Full Text
AUTHORS: Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTHORS: Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
Scopus WOS10
TITLE: New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
AUTHORS: Francisco, R; Pascoal, C; Marques Silva, D; Brasil, S; Pimentel Santos, F; Altassan, R; Jaeken, J; Grosso, AR; Ferreira, V; Videira, PA;
PUBLISHED: 2020, SOURCE: GLYCOBIOLOGY, VOLUME: 30, ISSUE: 12
AUTHORS: Francisco, R; Pascoal, C; Marques Silva, D; Brasil, S; Pimentel Santos, F; Altassan, R; Jaeken, J; Grosso, AR; Ferreira, V; Videira, PA;
PUBLISHED: 2020, SOURCE: GLYCOBIOLOGY, VOLUME: 30, ISSUE: 12
INDEXED IN: WOS
WOS