Alejandra Darling
Investigador
Last Publications
- Diaz-Moreno, U, Brothwell, SLC, Darling A, Baide HS, Lemonde, H, Turon-Viñas, E, Korenev, S, Ibañez, S, Beesley, C, Gissen, P, Parida, A, Santra, S, Wassmer, E and Batzios, S From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series JOURNAL OF INHERITED METABOLIC DISEASE . 49(1): .
- Pons R, Pearson TS, Pérez-Dueñas B, Garcia-Cazorla A, Kurian MA, Dalivigka Z, Zouvelou V, Outsika C, Kokkinou E, Sigatullina M, Darling A, O'Callaghan-Gordo M, Spaull R, Steel DBD, Salamou E, Forjaz MJ and Rodriguez-Blazquez C Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children MOVEMENT DISORDERS . 40(8): 1669-1679.
- Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, Garcia-Cazorla A, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H and Wolf NI Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 57: 72-81.
Projects
- Project name:
- Una aproximación multifactorial para avanzar en el estudio de las terapias para enfermedades mitocondriales neurodegenerativas, utilizando COXPD1 como modelo
- Leader
- Alejandra Darling
- Funding entities:
- Fundació Institut de Recerca Biomèdica (IRBB)
- Code
- PCP00427
- Starting - finishing date:
- 2024 - 2025
- 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:
- 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 - 2026
