Alejandra Darling
Investigador post-doc
Grupo de investigación
Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas
Últimas publicaciones
- Martins J, Darling A, Garrido C, Espinós C, Martí MJ, Dueñas BP and Temudo T Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients. Movement Disorders Clinical Practice . 6(8): 704-707.
- Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165.
- Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant. Neurogenetics . 20(2): 73-82.