Browsing by Author "Martí Seves, Ramón"
Now showing items 1-7 of 7
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Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice
Blazquez Bermejo, Cora; Molina Granada, David; Vila Julià, Ferran; Jiménez Heis, Daniel; Zhou, Xiaoshan; Torres Torronteras, Javier; Karlsson, Anna; Martí Seves, Ramón; Cámara Navarro, Yolanda (Elsevier, 2019-07-24) -
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Domínguez-Gonzalez, C.; Madruga‑Garrido, Marcos; Hirano, Michio; Martí, Itxaso; Martín, Miguel A.; Munell Casadesus, Francina; Martí Seves, Ramón (BMC, 2021-10-02) -
Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions
Carreño Gago, Lidia; Blazquez Bermejo, Cora; Díaz-Manera, Jordi; Cámara Navarro, Yolanda; Gallardo, Eduard; Martí Seves, Ramón; Torres Torronteras, Javier; García Arumí, Elena (Frontiers Media, 2019-06-14) -
Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit
Molina Granada, David; González Vioque, Emiliano; Dibley, Marris; Cabrera Perez, Raquel; Vallbona Garcia, Antoni; Torres Torronteras, Javier; Cámara Navarro, Yolanda; Martí Seves, Ramón (Nature Research, 2022-06-23) -
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
Shintaku, Jonathan; Pernice, Wolfgang Maximilian Anton; Eyaid, Wafaa; GC, Jeevan; Brown, Zuben P.; Juanola-Falgarona, Martí; Torres Torronteras, Javier; Martí Seves, Ramón (American Society for Clinical Investigation, 2022-07-01) -
Therapy Prospects for Mitochondrial DNA Maintenance Disorders
Ramon Pasías, Javier Francisco; Vila Julià, Ferran; Molina Granada, David; Molina Berenguer, Miquel; Melia Grimal, Mª Jesus; García Arumí, Elena; Torres Torronteras, Javier; Cámara Navarro, Yolanda; Martí Seves, Ramón (MDPI, 2021-06) -
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency
Carreño Gago, Lidia; Juárez-Flores, DL; Grau, Josep Maria; Ramon Pasías, Javier Francisco; Lozano, Ester; Vila Julià, Ferran; Martí Seves, Ramón; Garrabou, Gloria; García Arumí, Elena (MDPI, 2021-08)