Buscador de publicacions

Publicacions

  • Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.

    Multi-omics in MECP2 duplication syndrome patients and carriers.

    EUROPEAN JOURNAL OF NEUROSCIENCE . 60(2): 4004-4018. Nº de cites: 1

    [doi:10.1111/ejn.16389]

  • Pascual-Alonso A, Xiol-Viñas C, Smirnov D, Kopajtich R, Prokisch H and Armstrong-Moron J.

    Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

    HUMAN GENOMICS . 17(1): 85-85. Nº de cites: 4

    [doi:10.1186/s40246-023-00532-1]

  • Siqueira E, Obiols-Guardia A, Jorge-Torres OC, Oliveira-Mateos C, Soler M, Ramesh-Kumar D, Setién F, van Rossum D, Pascual-Alonso A, Xiol-Viñas C, Ivan C, Shimizu M, Armstrong-Moron J, Calin GA, Pasterkamp RJ, Esteller M and Guil S.

    Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome.

    MOLECULAR THERAPY-NUCLEIC ACIDS . 27: 621-644. Nº de cites: 8

    [doi:10.1016/j.omtn.2021.12.030]

  • Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.

    Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): 10375. Nº de cites: 3

    [doi:10.3390/ijms221910375]

  • Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J.

    MECP2-Related Disorders in Males.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): 9610. Nº de cites: 14

    [doi:10.3390/ijms22179610]

  • Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

    Biomedicines . 9(2): 148. Nº de cites: 3

    [doi:10.3390/biomedicines9020148]

  • 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 cites: 15

    [doi:10.1111/cge.13718]

  • 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 cites: 15

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

  • Vidal-Falcó S, Xiol-Viñas C, Pascual-Alonso A, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(16): . Nº de cites: 30

    [doi:10.3390/ijms20163925]

  • 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]