Carlos Ignacio Ortez Gonzalez
Investigador
Research group
Last Publications
- Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases. PEDIATRIC NEUROLOGY . 157: 5-13.
- Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1 NATURE COMMUNICATIONS . 15(1): 5359-5359.
- Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D Epilepsy in Duchenne and Becker muscular dystrophies. Annals of Clinical and Translational Neurology . 11(6): 1456-1464.
Projects
- Project name:
- Distrofias Musculares de Cinturas. Proyecto Historia Natural de pacientes en edad pediátrica y adultos
- Leader
- Carlos Ignacio Ortez Gonzalez
- Funding entities:
- Asociación Proyecto Alpha
- Code
- PFNR0198
- Starting - finishing date:
- 2024 - 2024
- 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