Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Awamleh, Z, Choufani, S, Wu, W, Rots, D, Dingemans, AJM, Khadri, NN, Boronat, S, Ibañez-Mico, S, Herraiz, LC, Ferrer, I, Carrascal, AM, Pérez-Jurado, LA, Lain, GA, Ortigoza-Escobar JD, de Vries, BBA, Koolen, DA and Weksberg, R A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells EUROPEAN JOURNAL OF HUMAN GENETICS . 32(3): 324-332.
- Nanetti L, Kearney M, Boesch S, Stovickova L, Ortigoza-Escobar JD, Macaya A, Gomez-Andres D, Roze E, Molnar MJ, Wolf NI, Darling A, Vasco G, Bertini E, Indelicato E, Neubauer D, Haack TB, Sagi JC, Danti FR, Sival D, Zanni G, Kolk A, Boespflug-Tanguy O, Schols L, van de Warrenburg B, Vidailhet M, Willemsen MA, Buizer AI, Orzes E, Ripp S, Reinhard C, Moroni I and Mariotti C Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND). NEUROLOGICAL SCIENCES . 45(3): 1007-1016.
- Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Schreiber R, Ortigoza-Escobar JD and Kunzelmann K Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. BRAIN . : .
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