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[Gene therapy: Where are we? Where are we going?].
Expósito J, Natera D, Carrera L, Armijo J, Rios A, Nascimento A, Ortez C. Expósito J, et al. Among authors: ortez c. Medicina (B Aires). 2023 Sep;83 Suppl 4:13-17. Medicina (B Aires). 2023. PMID: 37714117 Free article. Review. Spanish.
[Advances in the treatment of Duchenne muscular dystrophy].
Ortez C, Natera de Benito D, Carrera García L, Expósito J, Nolasco G, Nascimento A. Ortez C, et al. Medicina (B Aires). 2019;79 Suppl 3:77-81. Medicina (B Aires). 2019. PMID: 31603849 Free article. Review. Spanish.
[Diagnosis and treatment of congenital myopaties].
Natera de Benito D, Ortez C, Carrera García L, Expósito J, Bobadilla E, Nascimento A. Natera de Benito D, et al. Among authors: ortez c. Medicina (B Aires). 2019;79 Suppl 3:82-86. Medicina (B Aires). 2019. PMID: 31603850 Free article. Review. Spanish.
Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.
Carrera-García L, Muchart J, Lazaro JJ, Expósito-Escudero J, Cuadras D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez C, Natera-de Benito D, Nascimento A. Carrera-García L, et al. Among authors: ortez c. Eur J Paediatr Neurol. 2021 Mar;31:92-101. doi: 10.1016/j.ejpn.2021.02.009. Epub 2021 Mar 4. Eur J Paediatr Neurol. 2021. PMID: 33711792
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Trifunov S, Natera-de Benito D, Carrera-García L, Codina A, Expósito-Escudero J, Ortez C, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa C, Balsells S, Alcolea D, Nascimento A, Jimenez-Mallebrera C. Trifunov S, et al. Among authors: ortez c. J Neuromuscul Dis. 2023;10(4):653-665. doi: 10.3233/JND-230012. J Neuromuscul Dis. 2023. PMID: 37038823 Free PMC article.
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
Suárez-Calvet X, Fernández-Simón E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Suárez-Calvet X, et al. Among authors: ortez c. Cell Death Dis. 2023 Sep 7;14(9):596. doi: 10.1038/s41419-023-06103-5. Cell Death Dis. 2023. PMID: 37673877 Free PMC article.
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.
Paco S, Kalko SG, Jou C, Rodríguez MA, Corbera J, Muntoni F, Feng L, Rivas E, Torner F, Gualandi F, Gomez-Foix AM, Ferrer A, Ortez C, Nascimento A, Colomer J, Jimenez-Mallebrera C. Paco S, et al. Among authors: ortez c. PLoS One. 2013 Oct 11;8(10):e77430. doi: 10.1371/journal.pone.0077430. eCollection 2013. PLoS One. 2013. PMID: 24223098 Free PMC article.
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