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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr and REGAIN Study Group.

    Eculizumab improves fatigue in refractory generalized myasthenia gravis.

    QUALITY OF LIFE RESEARCH . 28(8): 2247-2254. Nº de cites: 31

    [doi:10.1007/s11136-019-02148-2]

  • Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M and Armstrong-Moron J.

    Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

    Molecular genetics & genomic medicine . 7(8): . Nº de cites: 5

    [doi:10.1002/mgg3.793]

  • Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM and Houlden H.

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

    NATURE COMMUNICATIONS . 10(1): 3094-3094. Nº de cites: 146

    [doi:10.1038/s41467-019-10910-w]

  • Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr and Regain Study Group.

    Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

    MUSCLE & NERVE . 60(1): 14-24. Nº de cites: 149

    [doi:10.1002/mus.26447]

  • 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 cites: 23

    [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 cites: 72

    [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 cites: 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 cites: 30

    [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 cites: 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 cites: 4

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