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  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome.

    CLINICAL GENETICS . 97(4): 610-620. Nº de citas: 2

    [doi:10.1111/cge.13718]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de citas: 4

    [doi:https://doi.org/10.1002/ajmg.a.61357]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M, Armstrong-Moron J and Rett Working Group.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    SCIENTIFIC REPORTS . 9: 11983-11983. Nº de citas: 2

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M, Rett Working Group 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): e793. Nº de citas: 1

    [doi:10.1002/mgg3.793]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Joan Maynou Fernández, Fernandez G, Xiol C, Pascual-Alonso A, Pineda M, Rett Working Group 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: 9

    [doi:10.1016/j.ejpn.2019.04.006]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M, Armstrong-Moron J and Rett Working Group.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    SCIENTIFIC REPORTS . 7: 12288-12288. Nº de citas: 12

    [doi:10.1038/s41598-017-11620-3]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

    PLoS One . 11(5): e0156359. Nº de citas: 22

    [doi:10.1371/journal.pone.0156359]

  • Tondo M, Moreno J, Casado M, Brandi-Tarrau N, Sierra-March C, Vilaseca MA, Ormazabal-Herrero A and Artuch-Iriberri R.

    Selenium Concentration in Cerebrospinal Fluid Samples from a Paediatric Population

    NEUROCHEMICAL RESEARCH . 35(8): 1290-1293. Nº de citas: 8

    [doi:10.1007/s11064-010-0182-7]

  • Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell-Sampol L, Sierra-March C, Brandi-Tarrau N, García-Arumí E, Rissech M, Velasco D, Costa JA and Artuch-Iriberri R.

    Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 12(6): 470-475. Nº de citas: 76

    [doi:10.1016/j.ejpn.2007.11.006]

  • García-Vicente S, Yraola F, Marti L, González-Muñoz E, García-Barrado MJ, Cantó C, Abella A, Bour S, Artuch-Iriberri R, Sierra-March C, Brandi-Tarrau N, Carpéné C, Moratinos J, Camps M, Palacín M, Testar X, Gumà A, Albericio F, Royo M, Mian A and Zorzano A.

    Oral insulin-mimetic compounds that act independently of insulin

    Diabetes . 56(2): 486-493. Nº de citas: 48

    [doi:10.2337/db06-0269]