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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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]

  • 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): .

    [doi:10.1002/jimd.12805]

  • 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 cites: 1

    [doi:10.1002/jimd.12841]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    Diagnostics . 15(1): .

    [doi:10.3390/diagnostics15010010]

  • Gimeno-Agud H, Díaz-Osorio Y and De Oyarzabal-Sanz AL.

    Biological Basis of Cell Trafficking: A General Overview

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

    [doi:10.1002/jimd.12839]

  • Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.

    Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.

    research square . : .

    [doi:10.21203/rs.3.rs-5682984/v1]

  • 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.

    [doi:10.1093/procel/pwae065]

  • de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla-Olivas SM, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R and Quintero J.

    Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

    Nutrients . 16(24): . Nº de cites: 2

    [doi:10.3390/nu16244309]

  • Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.

    Extra-temporal pediatric low-grade gliomas and epilepsy

    CHILDS NERVOUS SYSTEM . 40(10): 3309-3327. Nº de cites: 1

    [doi:10.1007/s00381-024-06573-8]

  • Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra-Checa A, Ramos F, Legius E, Moll HA, Elgersma Y and de Wit MY.

    Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : 537-549. Nº de cites: 3

    [doi:10.1111/dmcn.16094]