Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

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]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

    JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.

    [doi:10.1136/jmg-2024-110477]

  • 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]

  • Bernaus S, Romagosa J, Mata-Miquel C, Stephan-Otto C, Benítez R, Valls-Esteve A and Munuera-del Cerro JL.

    Novel classification of brain vascular tortuosity measures: A systematic review.

    COMPUT BIOL MED . 190: 109990-109990.

    [doi:10.1016/j.compbiomed.2025.109990]

  • Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.

    Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy

    MED . 6(4): 100544-100544.

    [doi:10.1016/j.medj.2024.10.021]

  • 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]