People / Staff

Judith Silvia Armstrong Morón

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Publications

  • Felipe, DF, Casas-Alba D, Sadok, SH, Fernández-Pérez MT, Vega-Hanna, L, Plaza, L, Vicente-Villa MA, Armstrong-Moron J, Guillén-Navarro, E and Martinez-Monseny T.

    Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome

    GENES . 16(8): .

    [doi:10.3390/genes16080925]

  • Siqueira E, Velasco CD, Tarrasón A, Soler M, Srinivas T, Setién F, Oliveira-Mateos C, Casado-Pelaez M, Martinez-Verbo L, Armstrong-Moron J, Esteller M, Alves LF, Llobet A and Guil S.

    NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome

    NUCLEIC ACIDS RESEARCH . 53(4): . Number of citations: 2

    [doi:10.1093/nar/gkaf074]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    Diagnostics . 15(1): . Number of citations: 1

    [doi:10.3390/diagnostics15010010]

  • 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 . 22(06): 466-469.

    [doi:10.1055/s-0044-1787194]

  • 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. Number of citations: 3

    [doi:10.1111/ejn.16389]

  • 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. Number of citations: 9

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

  • Illescas S, Díaz-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. Number of citations: 3

    [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. Number of citations: 5

    [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. Number of citations: 21

    [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. Number of citations: 7

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