Juan Darío Ortigoza Escobar
Investigador
Grup de recerca
Últimes publicacions
- Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication. CLINICAL CHEMISTRY . 70(12): 1443-1451.
- 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.
- Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up PLoS One . 19(10): .
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