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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]

  • Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome

    JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756. Nº de cites: 4

    [doi:10.1186/s12967-023-04622-5]

  • 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]

  • Petazzi P, Jorge-Torres OC, Gomez A, Scognamiglio I, Serra-Musach J, Merkel A, Grases D, Xiol-Viñas C, O'Callaghan-Gordo M, Armstrong-Moron J, Esteller M and Guil S.

    Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de cites: 5

    [doi:10.3390/ijms24021453]

  • Piniella D, Canseco A, Vidal-Falcó S, Xiol-Viñas C, Díaz de Bustamante A, Martí-Carrera I, Armstrong-Moron J, Bastolla U and Zafra F.

    Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de cites: 2

    [doi:10.3390/ijms24020955]

  • 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: 15

    [doi:10.3390/ijms22179610]

  • 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]

  • De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau-Páez C, O'Callaghan-Gordo M, Fernandez-Isern G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A.

    Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518. Nº de cites: 10

    [doi:10.3390/ijms21020518]