Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Nou-Fontanet L, Ousingsawat J, Aziz M, Maroofian R, Karimiani EG, Fernández-López A, Candela-Cantó SA, Rumià J, Dominguez AM, Schreiber R, Kunzelmann K and Ortigoza-Escobar JD Case Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca(2+) and K(+) Channel Dynamics and Experience With Pallidal Deep Brain Stimulation. PEDIATRIC NEUROLOGY . 172: 46-52.
- Maroofian R, Ortigoza-Escobar JD, Rohilla P, Alvi JR, Mushiba AM, Almontashiri NAM, Efthymiou S, Sultan T, Balla T and Houlden H Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia. MOVEMENT DISORDERS . 40(10): 2243-2250.
- Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers. Movement Disorders Clinical Practice . 12(10): 1615-1621.
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