Juan Darío Ortigoza Escobar
Investigador
Grup de recerca
Últimes publicacions
- 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.
- Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19.
- Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. MOVEMENT DISORDERS . 39(9): 1624-1630.
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