Alejandra Darling
Investigador
Last Publications
- Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L and Vanderver A Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy . 26(7): 739-748.
- 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.
Projects
- Project name:
- Enfermedades Neurodegenerativas de inicio en la infancia de origen genético: identificación y caracterización de entidades asociadas a la autofagia
- Leader
- Alejandra Darling
- Funding entities:
- Asociacion Bpan Spain
- Code
- PCP00418
- Starting - finishing date:
- 2024 - 2025
- 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:
- 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 - 2025