Search Results - Martí, Ramon

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  1. 1
    Measurement of Mitochondrial dNTP Pools

    Measurement of Mitochondrial dNTP Pools by Martí, Ramon, Dorado, Beatriz, Hirano, Michio

    Published 2012
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  2. 2
    Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphorylase Activity

    Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphorylase Activity by Martí, Ramon, López, Luis C., Hirano, Michio

    Published 2012
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  3. 3
    Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency

    Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency by Nishigaki, Yutaka, Martí, Ramon, Copeland, William C., Hirano, Michio

    Published 2003
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  4. 4
    Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

    Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) by González-Vioque, Emiliano, Torres-Torronteras, Javier, Andreu, Antoni L., Martí, Ramon

    Published 2011
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  5. 5
    Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy

    Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy by Cabrera-Pérez, Raquel, Vila-Julià, Ferran, Hirano, Michio, Mingozzi, Federico, Torres-Torronteras, Javier, Martí, Ramon

    Published 2019
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  6. 6
    Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

    Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome by Cámara, Yolanda, González-Vioque, Emiliano, Scarpelli, Mauro, Torres-Torronteras, Javier, Caballero, Andrea, Hirano, Michio, Martí, Ramon

    Published 2014
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  7. 7
    Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

    Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy by Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Vila-Julià, Ferran, Viscomi, Carlo, Cámara, Yolanda, Hirano, Michio, Zeviani, Massimo, Martí, Ramon

    Published 2018
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  8. 8
    Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

    Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) by Valentino, Maria Lucia, Martí, Ramon, Tadesse, Saba, Lopez, Luis Carlos, Manes, Jose L., Lyzak, Judy, Hahn, Angelika, Carelli, Valerio, Hirano, Michio

    Published 2007
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  9. 9
    Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

    Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions by Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena

    Published 2019
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  10. 10
    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 vitro

    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 vit... by de Luna, Noemí, Brull, Astrid, Guiu, Josep Maria, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L., Pinós, Tomàs

    Published 2015
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  11. 11
    Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model

    Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model by Brull, Astrid, de Luna, Noemí, Blanco-Grau, Albert, Lucia, Alejandro, Martin, Miguel Angel, Arenas, Joaquin, Martí, Ramon, Andreu, Antoni L, Pinós, Tomàs

    Published 2015
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  12. 12
    SAMHD1 Specifically Affects the Antiviral Potency of Thymidine Analog HIV Reverse Transcriptase Inhibitors

    SAMHD1 Specifically Affects the Antiviral Potency of Thymidine Analog HIV Reverse Transcriptase Inhibitors by Ballana, Ester, Badia, Roger, Terradas, Gerard, Torres-Torronteras, Javier, Ruiz, Alba, Pauls, Eduardo, Riveira-Muñoz, Eva, Clotet, Bonaventura, Martí, Ramon, Esté, José A.

    Published 2014
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  13. 13
    Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice

    Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice by Blázquez-Bermejo, Cora, Molina-Granada, David, Vila-Julià, Ferran, Jiménez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Martí, Ramon, Cámara, Yolanda

    Published 2019
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  14. 14
    Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

    Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides by Vila-Julià, Ferran, Cabrera-Pérez, Raquel, Cámara, Yolanda, Molina-Berenguer, Miguel, Lope-Piedrafita, Silvia, Hirano, Michio, Mingozzi, Federico, Torres-Torronteras, Javier, Martí, Ramon

    Published 2020
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  15. 15
    Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy

    Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encep... by Torres-Torronteras, Javier, Cabrera-Pérez, Raquel, Barba, Ignasi, Costa, Carme, de Luna, Noemí, Andreu, Antoni L., Barquinero, Jordi, Hirano, Michio, Cámara, Yolanda, Martí, Ramon

    Published 2016
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  16. 16
    Therapy Prospects for Mitochondrial DNA Maintenance Disorders

    Therapy Prospects for Mitochondrial DNA Maintenance Disorders by Ramón, Javier, Vila-Julià, Ferran, Molina-Granada, David, Molina-Berenguer, Miguel, Melià, Maria Jesús, García-Arumí, Elena, Torres-Torronteras, Javier, Cámara, Yolanda, Martí, Ramon

    Published 2021
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  17. 17
    Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency

    Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency by Carreño-Gago, Lidia, Juárez-Flores, Diana Luz, Grau, Josep Maria, Ramón, Javier, Lozano, Ester, Vila-Julià, Ferran, Martí, Ramon, Garrabou, Glòria, Garcia-Arumí, Elena

    Published 2021
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  18. 18
    Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE

    Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE by Torres-Torronteras, Javier, Viscomi, Carlo, Cabrera-Pérez, Raquel, Cámara, Yolanda, Di Meo, Ivano, Barquinero, Jordi, Auricchio, Alberto, Pizzorno, Giuseppe, Hirano, Michio, Zeviani, Massimo, Martí, Ramon

    Published 2014
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  19. 19
    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice by López, Luis C., Akman, Hasan O., García-Cazorla, Ángeles, Dorado, Beatriz, Martí, Ramón, Nishino, Ichizo, Tadesse, Saba, Pizzorno, Giuseppe, Shungu, Dikoma, Bonilla, Eduardo, Tanji, Kurenai, Hirano, Michio

    Published 2009
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  20. 20
    The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells

    The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells by Badia, Roger, Pujantell, Maria, Riveira-Muñoz, Eva, Puig, Teresa, Torres-Torronteras, Javier, Martí, Ramón, Clotet, Bonaventura, Ampudia, Rosa M., Vives-Pi, Marta, Esté, José A., Ballana, Ester

    Published 2016
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