Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Xiol-Viñas C, Olival J, Martorell-Sampol L and Ortigoza-Escobar JD A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene. CLINICAL GENETICS . 109(2): 398-399.
- Ortigoza-Escobar JD Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling. Current Neurology and Neuroscience Reports . 26(1): 6-6.
- Amato ME, Frías M, Cerisola A, Roldan-Molina M and Ortigoza-Escobar JD Novel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility CLINICAL GENETICS . 108(6): 708-712.
Projects
- Project name:
- Comprehensive analysis of clinical and transcriptomic data (liquid biopsy) to identify biomarkers in patients with GNAO1-related disorders
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Famiglie GNAO1
- Code
- PFE00142
- Starting - finishing date:
- 2024 - 2025
- Project name:
- Grup de Recerca en Neurociències Pediàtriques
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2017 SGR 1308
- Starting - finishing date:
- 2017 - 2021
- Project name:
- Biomarcadores y genes en la necrosis estriatal bilateral de la infancia
- Leader
- Belén Pérez Dueñas
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI15/00287
- Starting - finishing date:
- 2016 - 2018
