People / Staff

Alejandra Darling

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Publications

  • Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà-Brau A, Mantilla A, Pascual M, Martinell M, Meya U and Durr A.

    Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia

    NEUROLOGY-GENETICS . 8(6): 1-14. Number of citations: 3

    [doi:10.1212/NXG.0000000000200034]

  • Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pias-Peleteiro LD, O'Callaghan-Gordo M, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S and Espinós C.

    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11847. Number of citations: 9

    [doi:10.3390/ijms231911847]

  • Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, Garcia-Cazorla A, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P and Helbig I.

    Assessing the landscape of STXBP1-related disorders in 534 individuals

    BRAIN . 145(5): 1668-1683. Number of citations: 65

    [doi:10.1093/brain/awab327]

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie . 143: 112143-112143. Number of citations: 9

    [doi:10.1016/j.biopha.2021.112143]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

    PARKINSONISM & RELATED DISORDERS . 91: 19-22. Number of citations: 4

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Machuca C, Correa-Vela M, García-Navas D, Darling A, Villalón-García I, Sánchez-Alcázar JA, Pérez-Dueñas B, Erceg S and Espinós C.

    Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

    STEM CELL RESEARCH . 53: 102338-102338. Number of citations: 1

    [doi:10.1016/j.scr.2021.102338]

  • Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B and Espinós C.

    Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Annals of Clinical and Translational Neurology . 7(8): 1436-1442. Number of citations: 23

    [doi:10.1002/acn3.51095]

  • 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. Number of citations: 1

    [doi:10.1002/mdc3.12842]

  • 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. Number of citations: 10

    [doi:10.1016/j.seizure.2019.07.019]

  • 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. Number of citations: 8

    [doi:10.1007/s10048-019-00574-5]