Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Maynou-Fernández J, Fernandez-Isern G, Xiol C, Pascual-Alonso A, Pineda M and Armstrong-Moron J.

    The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(4): 609-620. Nº de citas: 24

    [doi:10.1016/j.ejpn.2019.04.006]

  • Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.

    Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Nº de citas: 90

    [doi:10.1002/jimd.12125]

  • Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S and UCDC and the E-IMD consortia study group.

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

    ANNALS OF NEUROLOGY . 86(1): 116-128. Nº de citas: 47

    [doi:10.1002/ana.25492]

  • Saudubray JM, Mochel F, Lamari F and Garcia-Cazorla A.

    Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 706-727. Nº de citas: 44

    [doi:10.1002/jimd.12086]

  • Casas-Alba D, Valero-Rello A, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Cabrerizo M, Molero M, Artuch-Iriberri R, Fortuny-Guasch C, Munoz-Almagro C and Launes-Montana C.

    Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis

    PEDIATRIC NEUROLOGY . 96: 70-73. Nº de citas: 8

    [doi:10.1016/j.pediatrneurol.2019.01.024]

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Nº de citas: 4

    [doi:10.1038/s41598-019-45674-2]

  • Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

    SCIENCE SIGNALING . 12(586): . Nº de citas: 61

    [doi:10.1126/scisignal.aaw0936]

  • Palacio-Navarro A, López-Sala A, Colomé-Roura R, Turón M, Callejón L, Marta Sanz Palau, Sans A, Poo P and Boix Lluch C.

    Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury

    REVISTA DE NEUROLOGIA . 68(11): 445-452. Nº de citas: 1

    [doi:10.33588/rn.6811.2018346]

  • Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    CLINICAL GENETICS . 95(6): 726-731. Nº de citas: 12

    [doi:10.1111/cge.13504]

  • Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D.

    Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics . 20(2): 73-82. Nº de citas: 9

    [doi:10.1007/s10048-019-00574-5]