Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
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 CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
openAccess | | 5-abr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, Eva CSIC ORCID; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCID | 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 CSIC ORCID; Leal, Fátima CSIC; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, María Luz; Martín-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID | artículo |
openAccess | | 2015 | Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studies | Brasil, Sandra CSIC ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima CSIC; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID | artículo |
openAccess | | feb-2018 | New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type | Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Gámez, Alejandra CSIC ORCID; Underhaug, Jarl; Flydal, Marte I.; Desviat, Lourdes R. CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Martínez, Aurora; Pérez, Belén CSIC ORCID | artículo |
openAccess | | mar-2018 | Protein misfolding diseases: Prospects of pharmacological treatment | Gámez, Alejandra CSIC ORCID; Yuste-Checa, Patricia CSIC; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID | artículo |
openAccess | | 2015 | The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein | Yuste-Checa, Patricia CSIC; Gámez, Alejandra CSIC ORCID; Brasil, Sandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID | artículo |