Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Ortigoza-Escobar JD, Schreiber R and Kunzelmann K Dystonia caused by ANO3 variants is due to attenuated Ca(2+) influx by ORAI1. BMC MEDICINE . 23(1): 12-12.
- Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD Clinical Response of Levodopa in CTNNB1 -Related Dystonia Journal of Pediatric Neurology . 22(06): 466-469.
- Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72.
Projects
- 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
- Project name:
- Pantothenate Kinase Associated Neurodegeneration: Clinical Assessment and Genetic Characterization by means of a Multi-Centre Research Network
- Leader
- Belén Pérez Dueñas
- Funding entities:
- Retrophin, Inc
- Code
- Intensificación privada
- Starting - finishing date:
- 2015 - 2017