Juan Darío Ortigoza Escobar
Investigador
Grup de recerca
Últimes publicacions
- Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S and Blasco-Amaro JA A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines PATIENT EDUCATION AND COUNSELING . 135: 108708-108708.
- 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 Ca2+ influx by ORAI1 BMC MEDICINE . 23(1): 12-12.
- Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey. JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .
Projectes
- 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
- Nom del projecte:
- Pantothenate Kinase Associated Neurodegeneration: Clinical Assessment and Genetic Characterization by means of a Multi-Centre Research Network
- Investigador/a principal
- Belén Pérez Dueñas
- Entitat/es finançadora/es:
- Retrophin, Inc
- Codi
- Intensificación privada
- Data de inici-fi:
- 2015 - 2017