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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 9-mar-2016 | Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects | Martínez-Pizarro, Ainhoa; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
| openAccess |  | 27-jul-2021 | Evaluating, filtering and clustering genetic disease cohorts based on human phenotype ontology data with cohort analyzer | Rojano, Elena; Córdoba-Caballero, José; Jabato, Fernando M.; Gallego, Diana; Serrano, Mercedes; Pérez, Belén CSIC ORCID; Parés-Aguilar, Álvaro; Perkins, James R.; Ranea, Juan A. G.; Seoane-Zonjic, Pedro | artículo |
| openAccess |  | 2019 | Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency | knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begoña CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne ; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez-Pombo, Pilar CSIC ORCID; Olpin, Simon E.; Banka, Siddharth | artículo |
| openAccess |  | ene-2024 | Exploring the reactivity of bicyclic α-iminophosphonates to access new imidazoline I<inf>2</inf> receptor ligands | Bagán, Andrea; Abás, Sònia; Palà Pujadas, Judith; Irisarri, Alba; Griñán-Ferré, Christian; Pallàs, Mercè; Muneta Arrate, Itziar; Muguruza, Carolina; Callado, Luis F.; Pérez, Belén CSIC ORCID; Molins, Elies CSIC ORCID ; Morales García, José; Escolano, Carmen | artículo |
| closedAccess |  | 2012 | Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia | Sánchez-Alcudia, Rocío CSIC; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 2015 | Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II | Matos, Liliana; GonÇalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCID; Alves, Sandra | 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 |  | 8-abr-2015 | Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man | Rivera-Barahona, Ana CSIC; Sánchez-Alcudia, Rocío CSIC; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén CSIC ORCID; Ugarte, Magdalena CSIC ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCID | artículo |
| openAccess |  | 2021 | Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite | Jabato, Fernando M.; Córdoba-Caballero, José; Rojano, Elena; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Pérez, Belén CSIC ORCID; Gallego, Diana; Seoane, Pedro; Ranea, Juan A. G.; Perkins, James R. | artículo |
| openAccess |  | 23-jul-2021 | Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuite | Jabato, Fernando M.; Córdoba-Caballero, José; Rojano, Elena; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Pérez, Belén CSIC ORCID; Gallego, Diana; Seoane, Pedro; Ranea, Juan A. G.; Perkins, James R. | 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 |  | 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 |  | 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 |  | 2019 | HIF1α suppresses tumor cell proliferation through inhibition of aspartate biosynthesis | Meléndez-Rodríguez, Florinda; Urrutia, Andrés A.; Lorendeau, Doriane; Rinaldi, Gianmarco; Roche, Olga CSIC ORCID; Böğürcü-Seidel, Nuray; Ortega-Muelas, Marta; Mesa-Ciller, Claudia; Turiel, Guillermo; Bouthelier, Antonio; Hernansanz-Agustín, Pablo; Elorza, Ainara; Escasany, Elia; Yang Li, Qilong Oscar; Torres-Capelli, Mar; Tello, Daniel; Fuertes, Esther; Fraga, Enrique; Martínez-Ruiz, Antonio CSIC ORCID; Pérez, Belén CSIC ORCID; Giménez-Bachs, José M.; Salinas-Sánchez, Antonio S.; Acker, Till; Sánchez-Prieto, Ricardo CSIC ORCID; Fendt, Sarah-Maria; De Bock, Katrien; Aragonés, Julián | artículo |
| openAccess | | 7-sep-2023 | Hitting a new combination of biological targets to cope with Alzheimer's disease | Martínez-Conde, Noemí; Granje, Marc; Digito, Francesca; Mullins, Joseph J.; Griñán-Ferré, Christian; Jarne-Ferrer, Júlia; Naldi, Marina; Bartolini, Manuela; Loza, María Isabel; Brea, José Manuel; Pérez, Belén CSIC ORCID; Bartra Cabré, Clara CSIC ORCID; Sanfeliu, Coral CSIC ORCID; Morisseau, Christophe; Hammock, Bruce D.; Pallàs, Mercè; Vázquez, Santiago; Muñoz-Torrero, Diego | comunicación de congreso |
| 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 |  | 21-ago-2020 | Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect | Correa-Vela, Marta; Lupo, Vincenzo CSIC ORCID; Montpeyó, Marta; Sancho, Paula; Marcé-Grau, Anna; Hernández-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández-Rodríguez, Sandra; Tello, Cristina; Ramírez-Jiménez, Laura; Pérez, Belén CSIC ORCID; Sánchez-Montáñez, Angel; Macaya, Alfons; Sobrido, Marıa J.; Martinez-Vicente, Marta; Pérez-Dueñas, Belén; Espinós, Carmen 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 |
