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| Rights | Preview | Issue Date | Title | Author(s) | Type |
| openAccess |  | 16-Sep-2014 | A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver | Gallego-Villar, Lorena  ; Viecelli, Hiu Man; Pérez, Belén ; Harding, Cary O; Ugarte, Magdalena ; Thöny, Beat; Desviat, Lourdes R. | artículo |
| closedAccess |  | 2013 | Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency | Tondo, Mireia; Calpena, Eduardo ; Arriola, Gema; Sanz, Paloma ; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena ; Espinos, Carmen; Pérez, Belén ; Pérez-Dueñas, Belén ; Artuch, Rafael | artículo |
| openAccess |  | 15-Mar-2016 | Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment | Bravo-Alonso, I; Oyarzábal, Alfonso ; Sánchez-Aragó, María ; Rejas, M. Teresa ; Merinero, Begoña ; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena ; Rodríguez-Pombo, Pilar | artículo |
| openAccess |  | 29-Jun-2017 | DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress | Yuste-Checa, Patricia ; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Pérez, Belén | artículo |
| openAccess |  | 18-Jul-2017 | Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia | Rivera-Barahona, Ana ; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva ; Desviat, Lourdes R. | artículo |
| openAccess |  | 9-Mar-2016 | Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects | Martínez-Pizarro, Ainhoa; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva | artículo |
| closedAccess |  | 2012 | Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia | Sánchez-Alcudia, Rocío ; Pérez, Belén ; Ugarte, Magdalena ; Desviat, Lourdes R. | artículo |
| closedAccess |  | 2012 | Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia | Gallego-Villar, Lorena ; Pérez-Cerdá, Celia; Pérez, Belén ; Abia, David ; Ugarte, Magdalena ; Richard, Eva ; Desviat, Lourdes R. | artículo |
| openAccess |  | 8-Apr-2015 | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man | Rivera-Barahona, Ana ; Sánchez-Alcudia, Rocío ; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén ; Ugarte, Magdalena ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. | artículo |
| openAccess |  | 6-Feb-2004 | Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency | Rodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena ; Peñalva, Miguel Ángel | artículo |
| openAccess |  | 30-Jul-2004 | Fungal metabolic model for type I 3-methylglutaconic aciduria | Rodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena ; Peñalva, Miguel Ángel | artículo |
| openAccess |  | 22-May-2019 | Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene | López-Márquez, Arístides ; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena ; Pérez, Belén ; Desviat, Lourdes R. ; Richard, Eva | artículo |
| openAccess |  | 16-Jul-2019 | Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene | Arribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides ; Alonso-Barroso, Esmeralda; Briso-Montiano, Alvaro; Arroyo, Ignacio; Ugarte, Magdalena ; Pérez, Belén ; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar ; Richard, Eva | artículo |
| openAccess |  | 22-Jul-2017 | Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene | Alonso-Barroso, Esmeralda; Brasil, Sandra ; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena ; Pérez, Belén ; Desviat, Lourdes R. ; Richard, Eva | artículo |
| openAccess |  | 5-Apr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, Eva ; Brasil, Sandra ; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther ; Merinero, Begoña ; Ugarte, Magdalena ; Desviat, Lourdes R. ; Pérez, Belén | artículo |
| openAccess |  | 1-Nov-2019 | Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment | Bravo-Alonso, Irene; Navarrete, Rosa; Vega, Ana Isabel; Ruíz-Sala, Pedro; García Silva, María Teresa; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, María; Vitoria, Isidro; Toledo, Laura; Couce, María Luz; García-Jiménez, Inmaculada; Ramos-Ruiz, Ricardo; Martín, Miguel Ángel; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén ; Rodríguez-Pombo, Pilar | artículo |
| openAccess |  | 24-Jul-2018 | Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants | Brasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén | artículo |
| openAccess |  | 2018 | Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants | Brasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén | artículo |
| closedAccess |  | 2010 | Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch | Rivera, Henry; Merinero, Begoña ; Ruiz-Sala, Pedro; Bornstein, Belén ; Gallardo, M. Esther ; Garesse, Rafael ; Ugarte, Magdalena ; Martín, Miguel A. | artículo |
| openAccess |  | 2015 | Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studies | Brasil, Sandra ; Richard, Eva ; Jorge-Finnigan, A.; Leal, Fátima ; Merinero, Begoña ; Banerjee, R.; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén | artículo |
