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Ana Roche Martínez

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Publications

  • 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. Number of citations: 15

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

  • 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. Number of citations: 19

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

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Number of citations: 60

    [doi:10.1371/journal.pone.0068851]

  • Roche-Martinez A, Turón M, Callejón L, Elisenda Solé Heuberger, Armstrong-Moron J and Pineda M.

    Treatment Response in Behaviour Disorders in Rett Syndrome

    Journal of Behavioral and Brain Science . 3(2): 217-224.

  • Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong-Moron J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A and Renieri A.

    Rett networked database: An integrated clinical and genetic network of rett syndrome databases

    HUMAN MUTATION . 33(7): 1031-1036. Number of citations: 14

    [doi:10.1002/humu.22072]

  • Roche-Martinez A, Armstrong-Moron J, Gerotina E, Fons-Estupina C, Campistol-Plana J and Pineda M.

    CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain

    Journal of Pediatric Epilepsy . 1(1): 27-35.

    [doi:10.3233/PEP-2012-005]

  • Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O and Pineda M.

    FOXG1, a new gene responsible for the congenital form of Rett syndrome

    REVISTA DE NEUROLOGIA . 52(10): 597-602. Number of citations: 15

    [doi:10.33588/rn.5210.2010725]

  • Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.

    Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

    AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Number of citations: 32

    [doi:10.1053/j.ajkd.2008.09.011]

  • Roche-Martinez A, Poo P, Maristany M, Jiménez-Llort A, Camacho Díaz JA and Campistol-Plana J.

    Neurologic presentation in haemolytic-uraemic syndrome

    REVISTA DE NEUROLOGIA . 47(4): 191-196. Number of citations: 2

    [doi:10.33588/rn.4704.2008249]