Personas / Equipo Humano

Alejandra Darling

Buscador de publicaciones

Publicaciones

  • Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

    Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

    Orphanet Journal of Rare Diseases . 13: 28-28. Nº de citas: 56

    [doi:10.1186/s13023-018-0758-x]

  • Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.

    Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study

    MOVEMENT DISORDERS . 32(11): 1620-1630. Nº de citas: 24

    [doi:10.1002/mds.27129]

  • Darling A, Poo P, Pérez-Dueñas B and Campistol-Plana J.

    Medication-related oculogyric crises: a description of four cases and a review of the literature

    REVISTA DE NEUROLOGIA . 56(3): 152-156. Nº de citas: 2

    [doi:10.33588/rn.5603.2012408]

  • Darling A, Jaimovich R, Romero C, Meli F and Schteinschnai A.

    Hemiespasmo facial de causa neurovascular

    Revista Neurología Infantil Argentina . 2(3): .

  • Kumar R, Gardner A, Bhattacharjee R, Agarwala S, van Eyk CL, Corbett MA, Carroll R, Kroes T, Ritchie T, de Nys R, Mazurkiewicz D, Bing W, Palmer EE, Field M, Verseput JJA, de Vries BBA, Dingemans AJM, Zhang Q, Li F, Bernier F, Lauzon J, Smigiel R, Ortigoza-Escobar JD, Garcia-Cazorla A, Darling A, Boerkoel CF, Huynh S, Costain G, van Ham TJ, Kasteleijn E, van Slegtenhorst M, Barakat TS, Elgersma Y, van Ierland Y, Veenma D, Azmanov D, Weisman AG, Prada CE, Parkash S, Rideout AL, Kerstjens-Frederikse WS, Vengoechea J, Schoene-Bake JC, Devillard F, van der Smagt J, Giesbertz NAA, Fry AE, Jezkova J, Kampmeier A, Kuechler A, Grasshoff U, Bertrand M, Hickey SE, Hunter JM, Marr MV, Dupont J, Bigoni S, Ferlini A, Selvatici R, Chatron N, Lesca G, Januel L, Rossi M, Rogers C, Davis JM, McKenzie F, Marbach F, Gieldon L, Schmidt WM, Paquay A, Bittner RE, Mahal S, Bernert G, Sinnerbrink I, Goodwin L, Cooper S, Bannink N, Jolly LA, McGaughran J, Bosman A, Hernan R, Chung WK, Valenzuela I, Cuscó I, Schlüter A, Pujol A, Pérez-Jurado LA and Gecz J.

    Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum.

    GENETICS IN MEDICINE . : 102734-102734.

    [doi:10.1016/j.gim.2026.102734]