Magdalena Ugarte
AuthID: R-00F-D8Q
1
TITLE: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants Full Text
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. Methylmalonic aciduria cblB type Full Text
AUTHORS: Brasil, S; Richard, E; Jorge Finnigan, A; Leal, F; Merinero, B; Banerjee, R; Desviat, LR; Ugarte, M; Perez, B;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 6
AUTHORS: Brasil, S; Richard, E; Jorge Finnigan, A; Leal, F; Merinero, B; Banerjee, R; Desviat, LR; Ugarte, M; Perez, B;
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 6
3
TITLE: Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type
AUTHORS: Ana Jorge Finnigan; Sandra Brasil; Jarl Underhaug; Pedro Ruiz Sala; Begona Amerinero; Ruma Banerjee; Lourdes R Desviat; Magdalena Ugarte; Aurora Martinez; Belen Perez;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 18
AUTHORS: Ana Jorge Finnigan; Sandra Brasil; Jarl Underhaug; Pedro Ruiz Sala; Begona Amerinero; Ruma Banerjee; Lourdes R Desviat; Magdalena Ugarte; Aurora Martinez; Belen Perez;
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 18
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Pseudoexon Exclusion by Antisense Therapy in 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Full Text
AUTHORS: Sandra Brasil; Hiu Man Viecelli; David Meili; Anahita Rassi; Lourdes R Desviat; Belen Perez; Magdalena Ugarte; Beat Thoeny;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 9
AUTHORS: Sandra Brasil; Hiu Man Viecelli; David Meili; Anahita Rassi; Lourdes R Desviat; Belen Perez; Magdalena Ugarte; Beat Thoeny;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 9
5
TITLE: Revisiting MSUD in Portuguese Gypsies: Evidence for a Founder Mutation and for a Mutational Hotspot within the BCKDHA Gene Full Text
AUTHORS: Sofia Quental ; Alfredo Gusmao; Pilar Rodriguez Pombo; Magdalena Ugarte; Laura Vilarinho; Amorim, Antonio ; Maria J Prata ;
PUBLISHED: 2009, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 73, ISSUE: 3
AUTHORS: Sofia Quental ; Alfredo Gusmao; Pilar Rodriguez Pombo; Magdalena Ugarte; Laura Vilarinho; Amorim, Antonio ; Maria J Prata ;
PUBLISHED: 2009, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 73, ISSUE: 3
