Carlos Ignacio Ortez Gonzalez
Investigador
Research group
SJD Barcelona Children's Hospital Last Publications
- Exposito-Escudero JM, Natera-de Benito D, Carrera-García L, Armijo JA, Rios A, Nascimento-Osorio A and Ortez-Gonzalez CI Terapia génica: ¿dónde estamos?, ¿a dónde vamos? MEDICINA-BUENOS AIRES . 83 Suppl 4: 13-17.
- Mohassel P, Yun P, Syeda S, Batra A, Bradley AJ, Donkervoort S, Monges S, Cohen JS, Leung DG, Munell F, Ortez-Gonzalez CI, Sánchez-Montáñez A, Karachunski P, Brandsema J, Medne L, Chaudhry V, Tasca G, Foley AR, Udd B, Arai AE, Walter GA and Bönnemann CG A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy. Annals of Clinical and Translational Neurology . 10(8): 1442-1455.
- Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A, Codina-Bergadà A, Rodriguez MJ, Gallano P and Gonzalez-Quereda L Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS . 60(6): 615-619.
Projects
- Project name:
- Cerrando la brecha terapeutica para Distrofias Musculares Congenitas. Estrategias para mejorar la eficacia, liberacion y seguridad de terapias basadas en CRISPR/Cas9 y oligonucleotidos
- Leader
- Cecilia Jiménez Mallebrera
- Funding entities:
- Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD, Jiménez Mallebrera, Cecilia
- Code
- PI22/01382
- Starting - finishing date:
- 2023 - 2025
- Project name:
- Cohort of Spanish Patients with Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
- Leader
- Carlos Ignacio Ortez Gonzalez
- Funding entities:
- PTC Therapeutics International Limited
- Code
- PCP00337
- Starting - finishing date:
- 2022 - 2024
- Project name:
- ArmTracker: A state-of-the-art wearable system to assess upper limb motor function in reallife conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy.
- Leader
- Daniel Natera de Benito
- Funding entities:
- Fundació La Marató de TV3
- Code
- 561/C/2020
- Starting - finishing date:
- 2021 - 2024