Browsing by Author Badosa, Carmen
Showing results 1 to 6 of 6
Issue Date | Title | Author(s) |
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16-Apr-2022 | CRISPR/Cas9-mediated allele-specific disruption of a dominant COL6A1 pathogenic variant improves collagen VI network in patient fibroblasts | López-Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Roldán Molina, Mònica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia |
22-Jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez González, Cristina; Badosa, Carmen; Madruga Garrido, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos Ignacio; Díaz Manera, Jordi; Berardo, Andrés; Alonso Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blázquez Bermejo, Cora; Cámara Navarro, Yolanda; Martí, Ramon; Mavillard, Fabiola; Martín, Miguel A.; Montoya, Julio; Ruíz Pesini, Eduardo; Villarroya i Terrade, Joan; Montero Sánchez, Raquel; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez Mallebrera, Cecilia |
6-Jan-2019 | Late-onset thymidine kinase 2 deficiency: a review of 18 cases | Domínguez González, Cristina; Hernández lain, Aurelio; Rivas, Eloy; Hernández Voth, Ana; Sayas Catalán, Javier; Fernández Torrón, Roberto; Fuiza Luces, Carmen; García García, Jorge; Morís, Germán; Olivé i Plana, Montserrat; Miralles, Francesc; Díaz Manera, Jordi; Caballero, Candela; Méndez Ferrer, Bosco; Martí, Ramon; García Arumí, Elena; Badosa, Carmen; Esteban, Jesús; Jiménez-Mallebrera, Cecilia; Blázquez Encinar, Alberto; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen |
20-Sep-2022 | Pathological Features in Paediatric Patients with TK2 Deficiency | Jou, Cristina; Nascimento, Andres; Codina, Anna; Montoya, Julio; López-Gallardo, Ester; Emperador, Sonia; Ruiz-pesini, Eduardo; Montero, Raquel; Natera-de Benito, Daniel; Ortez, Carlos I.; Marquez, Jesus; Zelaya, Maria V.; Gutierrez-mata, Alfonso; Badosa, Carmen; Carrera-García, Laura; Expósito-escudero, Jesica; Roldán, Monica; Camara, Yolanda; Marti, Ramon; Ferrer, Isidre; Jimenez-mallebrera, Cecilia; Artuch Iriberri, Rafael |
1-Jan-2022 | Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies | Almici, Enrico; Chiappini, Vanessa; López Márquez, Arístides; Badosa, Carmen; Blázquez, Blanca; Caballero, David; Montero Boronat, Juan José; Natera de Benito, Daniel; Nascimento, Andrés; Roldan, Mònica; Lagunas, Anna; Jimenez Mallebrera, Cecilia; Samitier i Martí, Josep |
18-Jan-2017 | The histone demethylase PHF8 is a molecular safeguard of the IFNgamma response | Asensio Juan, Elena; Fueyo, Raquel; Pappa, Stella; Iacobucci, Simona; Badosa, Carmen; Lois Olmo, Sergio; Balada, Miriam; Bosch Presegué, Laia; Vaquero García, Alejandro; Gutiérrez, Sara; Caelles Franch, Carme; Gallego, Carme; de la Cruz, Xavier; Martínez Balbás, Marian |