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Frontiers in Genetics|July 2, 2019
Identification and Characterization of New <i>RNASEH1</i> Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA DeletionsLidia Carreño-Gago, Cora Blázquez-Bermejo, Jordi Díaz-Manera, et al.
FEBS Letters|July 7, 2007
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Maria Lucia Valentino, Ramon Martí, Saba Tadesse, et al.
Cell Cycle (Georgetown, Tex.)|May 1, 2015
Cyclin D3-dependent control of the dNTP pool and HIV-1 replication in human macrophagesAlba Ruiz, Eduardo Pauls, Roger Badia, et al.
Biochemical and Biophysical Research Communications|October 13, 2012
Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndromeIsabel Huber-Ruano, Ekaitz Errasti-Murugarren, Valeria Godoy, et al.
Mitochondrion|September 4, 2010
A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegiaTomàs Pinós, Mario Marotta, Eduard Gallardo, et al.
Disease Models & Mechanisms|March 13, 2015
Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitroNoemí de Luna, Astrid Brull, Josep Maria Guiu, et al.
The Journal of Physiology|April 16, 2015
Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse modelAstrid Brull, Noemí de Luna, Albert Blanco-Grau, et al.
Ebiomedicine|November 24, 2020
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosidesFerran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, et al.
Ebiomedicine|July 29, 2019
Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient miceCora Blázquez-Bermejo, David Molina-Granada, Ferran Vila-Julià, et al.
Antimicrobial Agents and Chemotherapy|June 11, 2014
SAMHD1 specifically affects the antiviral potency of thymidine analog HIV reverse transcriptase inhibitorsEster Ballana, Roger Badia, Gerard Terradas, et al.
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