Alejandra Darling
Investigador
Last Publications
- Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569.
- 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.
- 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 NAO1-Related Disorder Correlates with Changes in G-Protein Function ANNALS OF NEUROLOGY . 94(5): 987-1004.
Projects
- Project name:
- Enfermedad es Bpan
- Leader
- Alejandra Darling , Alfonso Luis De Oyarzabal Sanz
- Funding entities:
- ZZZZ_O.H.S.J.D.-Curia Provincial, Provincia San Juan de Dios de España
- Code
- PFNR0186
- Starting - finishing date:
- 2023
- Project name:
- Eficacia y tolerabilidad de la coenzima Q (Ubiquinol) en pacientes con trastornos mitocondriales y ataxias cerebelosas
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- ICI22/00092
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Medicina personalizada en los defectos genéticos de la neurotransmisión en pediatría. Nuevo enfoque basado en el metabolismo de la sinapsis neuronal
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI18/00111
- Starting - finishing date:
- 2019 - 2022