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Recurrent Dissemination of SARS-CoV-2 Through the Uruguayan-Brazilian Border.
Mir D, Rego N, Resende PC, Tort F, Fernández-Calero T, Noya V, Brandes M, Possi T, Arleo M, Reyes N, Victoria M, Lizasoain A, Castells M, Maya L, Salvo M, Schäffer Gregianini T, Mar da Rosa MT, Garay Martins L, Alonso C, Vega Y, Salazar C, Ferrés I, Smircich P, Sotelo Silveira J, Fort RS, Mathó C, Arantes I, Appolinario L, Mendonça AC, Benítez-Galeano MJ, Simoes C, Graña M, Motta F, Siqueira MM, Bello G, Colina R, Spangenberg L. Mir D, et al. Among authors: tort f. Front Microbiol. 2021 May 28;12:653986. doi: 10.3389/fmicb.2021.653986. eCollection 2021. Front Microbiol. 2021. PMID: 34122369 Free PMC article.
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M. Hidalgo-Gutierrez A, et al. Among authors: tort f. Ann Neurol. 2024 Sep 4. doi: 10.1002/ana.27071. Online ahead of print. Ann Neurol. 2024. PMID: 39230499
Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.
Mateu-Bosch A, Segur-Bailach E, Muñoz-Moreno E, Barallobre MJ, Arbonés ML, Gea-Sorlí S, Tort F, Ribes A, García-Villoria J, Fillat C. Mateu-Bosch A, et al. Among authors: tort f. Mol Ther Methods Clin Dev. 2024 Jun 4;32(3):101276. doi: 10.1016/j.omtm.2024.101276. eCollection 2024 Sep 12. Mol Ther Methods Clin Dev. 2024. PMID: 38983872 Free PMC article.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: tort f. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.
Mateu-Bosch A, Segur-Bailach E, García-Villoria J, Gea-Sorlí S, Ruiz I, Del Rey J, Camps J, Guitart-Mampel M, Garrabou G, Tort F, Ribes A, Fillat C. Mateu-Bosch A, et al. Among authors: tort f. Gene Ther. 2024 Jan;31(1-2):12-18. doi: 10.1038/s41434-023-00428-8. Epub 2023 Nov 20. Gene Ther. 2024. PMID: 37985879 Free article.
63 results