Persones / Equip Humà

Judith Silvia Armstrong Morón

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]

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . : .

    [doi:10.1055/s-0044-1787194]

  • Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong-Moron J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M and Vikkula M.

    Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 213-213.

    [doi:10.1186/s13023-024-03196-9]

  • Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Nº de cites: 2

    [doi:10.1002/jimd.12689]

  • Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.

    Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

    HUMAN GENETICS . 143(3): 279-291.

    [doi:10.1007/s00439-024-02657-2]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de cites: 8

    [doi:10.1002/ana.26758]

  • 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]

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • 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]