Persones / Equip Humà

Judith Silvia Armstrong Morón

Buscador de publicacions

Publicacions

  • 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: 16

    [doi:10.3390/ijms22179610]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.

    Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

    PEDIATRIC NEUROLOGY . 119: 40-44. Nº de cites: 6

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de cites: 10

    [doi:10.3390/ijms22084274]

  • Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong-Moron J, Renieri A and Mari F.

    IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

    CLINICAL GENETICS . 99(3): 462-474. Nº de cites: 12

    [doi:10.1111/cge.13908]

  • 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]

  • Montolío-Marzo S, Català-Mora J, Madrid-Aris Á, Armstrong-Moron J, Diaz-Carcajosa J and Carreras E.

    IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 63(12): 104073-104073. Nº de cites: 5

    [doi:10.1016/j.ejmg.2020.104073]

  • Miranda-Lourenço C, Duarte ST, Palminha C, Gaspar C, Rodrigues TM, Magalhães-Cardosof T, Rei N, Colino-Oliveira M, Gomes R, Ferreira S, Rosa J, Xapelli S, Armstrong-Moron J, Garcia-Cazorla A, Correia-de-Sá P, Sebastião AM and Diógenes MJ.

    Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.

    NEUROBIOLOGY OF DISEASE . 145: 105043-105043. Nº de cites: 9

    [doi:10.1016/j.nbd.2020.105043]

  • Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.

    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency

    OPHTHALMIC GENETICS . 41(6): 656-658. Nº de cites: 7

    [doi:10.1080/13816810.2020.1821382]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 15

    [doi:10.1016/j.jmoldx.2020.06.008]