Juan Darío Ortigoza Escobar
Investigador
Grup de recerca
Últimes publicacions
- Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA and Ortigoza-Escobar JD Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series. EUROPEAN JOURNAL OF NEUROLOGY . 30(12): 3928-3948.
- de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons-Estupina C, López Pisón J and Ortigoza-Escobar JD Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review. Movement Disorders Clinical Practice . 10(11): 1671-1679.
- Jana Domínguez Carral, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function. ANNALS OF NEUROLOGY . 94(5): 987-1004.
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