People / Staff

Alejandra Darling

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Publications

  • Romagosa J, Ribeiro J, Julià-Palacios NA, Darling A, Marí-Vico R, Valls-Esteve A, Olivella M, Altafaj X, Stephan-Otto C and Garcia-Cazorla A.

    Brain structure abnormalities in neurodevelopmental synaptopathies.

    NeuroImage. Clinical . 51: 104038-104038.

    [doi:10.1016/j.nicl.2026.104038]

  • Carvalho V, Guedes LC, Gatto E, Rodriguez-Violante M, Klein C, Rodriguez-Porcel F, Morgante F, Rossi M, Miranda M, Ganos C, Riboldi GM, Cesarini M, Darling A, Skorvanek M, van de Warrenburg B, Shalash A, Cossu G, Friedman J, Albanese A, Cardozo A, Lohmann K, Thaler A, Stamelou M, Saunders-Pullman R, Marras C, Sarva H, Bhatia KP and Ferreira JJ.

    Essential genetic testing in movement disorders - results from a Delphi study

    PARKINSONISM & RELATED DISORDERS . 148: 108367-108367.

    [doi:10.1016/j.parkreldis.2026.108367]

  • Laugwitz L, Fumagalli F, Wehner K, Martin P, Kern J, Kaiser N, Kehrer C, Launer T, Juengling P, Steiner-Wilke I, Dalle JH, Döring M, Eklund EA, Forsgren M, Ghosh A, Lang P, Holzer U, Lindemans C, Ram D, Schulte JH, Sevin C, Turkiewicz D, Darling A, Marsal-Ricoma J, Müller I, Bley A, Horgan C, Weitz M, Wolf NI, Yazbeck E, Consortium I, Rosewich H, Groeschel S and Calbi V.

    European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapy.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 63: 46-59. Number of citations: 1

    [doi:10.1016/j.ejpn.2026.06.004]

  • Bisseling Q, Parker MD, Kerst S, Pasternack RA, Tondreau J, Breur M, van Rooijen-van Leeuwen GM, Tonduti D, Salsano E, Darling A, van Wijk JAE, Törnroth-Horsefield S, Bugiani M, Pouwels PJW, Waisfisz Q, van der Knaap MS and Min R.

    A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70363]

  • 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): .

    [doi:10.1002/jimd.70118]

  • 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. Number of citations: 3

    [doi:10.1002/mds.30219]

  • 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. Number of citations: 6

    [doi:10.1016/j.ejpn.2025.05.012]

  • Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 5

    [doi:10.1002/jimd.12841]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Number of citations: 4

    [doi:10.1002/jimd.12805]

  • Schoenmakers, DH, Beerepoot, S, Adang, LA, Asbreuk, MABC, Bergner, CG, Bley, AE, Boelens, JJ, Calbi, V, Darling A, Eklund, E, Cazorla, AG, Gronborg, SW, Groeschel, S, van Hasselt, PM, Hollak, CEM, Horgan, C, Jones, S, de Koning, T, Laugwitz, L, Lindemans, C, Martin, P, Mochel, F, Oberg, A, Ram, D, Sevin, C, Schöls, L, Zerem, A, Wolf, N and Fumagalli, F.

    Gene therapy in advanced metachromatic leukodystrophy: tempering expectations

    Protein & Cell . 16(1): 12-15. Number of citations: 4

    [doi:10.1093/procel/pwae065]