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Publicaciones

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de citas: 13

    [doi:10.3390/jcm8010068]

  • Candela-Cantó SA, Vanegas-Grisales MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart-Lopez J, Climent A, Ferrer Vidal-Barraquer E, Rumià J and Pérez-Dueñas B.

    Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 22(4): 416-425. Nº de citas: 26

    [doi:10.3171/2018.5.PEDS1814]

  • Tello C, Darling A, Lupo V, Pérez-Dueñas B and Espinós C.

    On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

    CLINICAL GENETICS . 93(4): 731-740. Nº de citas: 23

    [doi:10.1111/cge.13057]

  • 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: 39

    [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: 17

    [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: 1

    [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): .

  • 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 . : .

    [doi:https://doi.org/10.1002/jimd.12841]