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Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.
EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
EBioMedicine. 2019.
PMID: 31351931
Free PMC article.
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.
Vila-Julià F, Cabrera-Pérez R, Cámara Y, Molina-Berenguer M, Lope-Piedrafita S, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R.
Vila-Julià F, et al.
EBioMedicine. 2020 Dec;62:103133. doi: 10.1016/j.ebiom.2020.103133. Epub 2020 Nov 21.
EBioMedicine. 2020.
PMID: 33232869
Free PMC article.
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Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.
Torres-Torronteras J, Cabrera-Pérez R, Vila-Julià F, Viscomi C, Cámara Y, Hirano M, Zeviani M, Martí R.
Torres-Torronteras J, et al. Among authors: vila julia f.
Hum Gene Ther. 2018 Jun;29(6):708-718. doi: 10.1089/hum.2017.133. Epub 2018 Feb 26.
Hum Gene Ther. 2018.
PMID: 29284302
Free PMC article.
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Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Cabrera-Pérez R, Vila-Julià F, Hirano M, Mingozzi F, Torres-Torronteras J, Martí R.
Cabrera-Pérez R, et al. Among authors: vila julia f.
Hum Gene Ther. 2019 Aug;30(8):985-998. doi: 10.1089/hum.2018.217. Epub 2019 Apr 24.
Hum Gene Ther. 2019.
PMID: 30900470
Free PMC article.
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Therapy Prospects for Mitochondrial DNA Maintenance Disorders.
Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R.
Ramón J, et al. Among authors: vila julia f.
Int J Mol Sci. 2021 Jun 16;22(12):6447. doi: 10.3390/ijms22126447.
Int J Mol Sci. 2021.
PMID: 34208592
Free PMC article.
Review.
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Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.
Molina-Berenguer M, Vila-Julià F, Pérez-Ramos S, Salcedo-Allende MT, Cámara Y, Torres-Torronteras J, Martí R.
Molina-Berenguer M, et al. Among authors: vila julia f.
FASEB J. 2022 Jan;36(1):e22091. doi: 10.1096/fj.202100819RRR.
FASEB J. 2022.
PMID: 34919756
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Preclinical Assessment of a Gene-Editing Approach in a Mouse Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Parés M, Fornaguera C, Vila-Julià F, Oh S, Fan SHY, Tam YK, Comes N, Vidal F, Martí R, Borrós S, Barquinero J.
Parés M, et al. Among authors: vila julia f.
Hum Gene Ther. 2021 Oct;32(19-20):1210-1223. doi: 10.1089/hum.2021.152.
Hum Gene Ther. 2021.
PMID: 34498979
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Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Carreño-Gago L, Juárez-Flores DL, Grau JM, Ramón J, Lozano E, Vila-Julià F, Martí R, Garrabou G, Garcia-Arumí E.
Carreño-Gago L, et al. Among authors: vila julia f.
J Clin Med. 2021 Aug 5;10(16):3471. doi: 10.3390/jcm10163471.
J Clin Med. 2021.
PMID: 34441767
Free PMC article.
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