Publicaciones
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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: 15
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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: 8
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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 and Armstrong-Moron J.
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de citas: 15
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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 citas: 5
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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
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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 and Armstrong-Moron J.
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de citas: 19
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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): . Nº de citas: 40
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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: 91
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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: 61
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Artuch-Iriberri R, Colomé C, Sierra-March C, Brandi-Tarrau N, Lambruschini N, Campistol-Plana J, Ugarte D and Vilaseca MA.
A longitudinal study of antioxidant status in phenylketonuric patients
CLINICAL BIOCHEMISTRY . 37(3): 198-203. Nº de citas: 58