Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, Garcia-Cazorla A, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A and Wolf NI.

    Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

    Neurology . 105(2): .

    [doi:10.1212/WNL.0000000000213817]

  • Garcia-Cazorla A, Sevin C, Ribeiro J, Yazbeck E, Rosewich H, Jimenez S, Chia-Yi Chiang G, Rapalino O, Caruso P, Balentine D, Helmer KG, Bennett S, Emanuele M, Rodriguez-Pascau L, Pizcueta P, Pina G, Vilà A, Rovira M, Mantilla A, Meya U, Mistry A, Pascual M, Pascual S, Martinell M, Musolino PL and Mallack E.

    Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial

    EClinicalMedicine . 84: 103265-103265.

    [doi:10.1016/j.eclinm.2025.103265]

  • 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 . : .

    [doi:10.1002/mds.30219]

  • Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla-Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortés-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M and Quijada-Fraile P.

    Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

    Nutrients . 17(7): .

    [doi:10.3390/nu17071173]

  • Garcia-Cazorla A, Morava, E and Saudubray, JM.

    "Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): .

    [doi:10.1002/jimd.70004]

  • Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA and Vanderver AL.

    The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109048-109048.

    [doi:10.1016/j.ymgme.2025.109048]

  • Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X.

    Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Nº de citas: 1

    [doi:10.1002/jimd.70015]

  • Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL.

    The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051.

    [doi:10.1016/j.ymgme.2025.109051]

  • Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.

    Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome

    PEDIATRIC RESEARCH . 97(2): 751-762.

    [doi:10.1038/s41390-024-03254-9]

  • 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): . Nº de citas: 1

    [doi:10.1002/jimd.12841]