Juan Darío Ortigoza Escobar
Investigador
Grup de recerca
Últimes publicacions
- 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.
Projectes
- Nom del projecte:
- Comprehensive analysis of clinical and transcriptomic data (liquid biopsy) to identify biomarkers in patients with GNAO1-related disorders
- Investigador/a principal
- Juan Darío Ortigoza Escobar
- Entitat/es finançadora/es:
- Famiglie GNAO1
- Codi
- PFE00142
- Data de inici-fi:
- 2024 - 2025
- Nom del projecte:
- Grup de Recerca en Neurociències Pediàtriques
- Investigador/a principal
- Francesc Palau Martínez
- Entitat/es finançadora/es:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Codi
- 2017 SGR 1308
- Data de inici-fi:
- 2017 - 2021
- Nom del projecte:
- Biomarcadores y genes en la necrosis estriatal bilateral de la infancia
- Investigador/a principal
- Belén Pérez Dueñas
- Entitat/es finançadora/es:
- Instituto de Salud Carlos III (ISCIII)
- Codi
- PI15/00287
- Data de inici-fi:
- 2016 - 2018
