Mostrando resultados 2 a 16 de 16
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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 29-jun-2017 | DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress | Yuste-Checa, Patricia CSIC; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID | artículo |
closedAccess | | 2012 | DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotype | Arroyo Carrera, Ignacio; Matthijs, Gert; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia | artículo |
openAccess | | 18-jul-2017 | Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia | Rivera-Barahona, Ana CSIC; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | artículo |
closedAccess | | 2012 | Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia | Gallego-Villar, Lorena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Abia, David CSIC ORCID ; Ugarte, Magdalena CSIC ; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID | 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 CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; 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 | | 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 CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCID | 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 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 | | 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 CSIC ORCID; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID | artículo |
openAccess | | nov-2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations | Rivera-Barahona, Ana CSIC; Navarrete, Rosa; García-Rodríguez, Raquel; Richard, Eva CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. 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 |
closedAccess | | 2012 | Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia) | Casado, Mercedes; O'Callaghan, M.; Montero, Raquel; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Briones, Paz CSIC; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, Mercé; Artuch, Rafael | 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 | | 1-jul-2020 | Proteostasis regulators as potential rescuers of PMM2 activity | Vilas, Alicia; Yuste-Checa, Patricia CSIC; Gallego, Diana; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Gámez, Alejandra CSIC ORCID; 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 |
closedAccess | | feb-2001 | The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolism | Gallardo, M. Esther CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Rodríguez, José M.; Esparza-Gordillo, Jorge CSIC; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga CSIC ORCID ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago ; Ugarte, Magdalena CSIC ; Peñalva, Miguel Ángel CSIC ORCID | artículo |