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International Journal of Molecular Sciences|July 2, 2021
Therapy Prospects for Mitochondrial DNA Maintenance DisordersJavier Ramón, Ferran Vila-Julià, David Molina-Granada, et al.
Antimicrobial Agents and Chemotherapy|August 19, 2015
Darunavir and ritonavir total and unbound plasmatic concentrations in HIV-HCV-coinfected patients with hepatic cirrhosis compared to those in HIV-monoinfected patientsAdrian Curran, Ramon Martí, Rosa María López, et al.
Journal of Clinical Medicine|August 27, 2021
Two Novel Variants in <i>YARS2</i> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic InsufficiencyLidia Carreño-Gago, Diana Luz Juárez-Flores, Josep Maria Grau, et al.
EMBO Molecular Medicine|April 17, 2026
Systemic delivery of AAV-GFM1 corrects COXPD1 molecular alterations in Gfm1<sup>R671C/-</sup> miceMiguel Molina-Berenguer, Diego Herrero-Martínez, Antoni Vallbona-Garcia, et al.
Human Gene Therapy|March 24, 2016
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal EncephalomyopathyJavier Torres-Torronteras, Raquel Cabrera-Pérez, Ignasi Barba, et al.
Pediatric Research|April 28, 2010
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 geneRamon Martí, Andrés Nascimento, Jaume Colomer, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 23, 2014
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIEJavier Torres-Torronteras, Carlo Viscomi, Raquel Cabrera-Pérez, et al.
Human Gene Therapy|September 9, 2021
Preclinical Assessment of a Gene-Editing Approach in a Mouse Model of Mitochondrial Neurogastrointestinal EncephalomyopathyMarta Parés, Cristina Fornaguera, Ferran Vila-Julià, et al.
Brain : a Journal of Neurology|June 26, 2012
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle diseaseGisela Nogales-Gadea, Tomàs Pinós, Alejandro Lucia, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiencyCristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, et al.
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