People / Staff

Judith Silvia Armstrong Morón

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Publications

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Number of citations: 4

    [doi:10.1038/s41598-019-45674-2]

  • Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

    SCIENCE SIGNALING . 12(586): . Number of citations: 49

    [doi:10.1126/scisignal.aaw0936]

  • Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong-Moron J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L and Renieri A.

    Analysis of the Phenotypes in the Rett Networked Database

    INTERNATIONAL JOURNAL OF GENOMICS . 2019: 6956934-6956934. Number of citations: 19

    [doi:10.1155/2019/6956934]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Number of citations: 12

    [doi:10.3390/jcm8010068]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Number of citations: 9

    [doi:10.1007/s10545-018-0224-x]

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Number of citations: 16

    [doi:10.1097/MCD.0000000000000237]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Number of citations: 7

    [doi:10.1111/dmcn.13746]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4

    [doi:10.33588/rn.6607.2017498]

  • López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V and Domínguez-Garrido E.

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

    BMC MEDICAL GENETICS . 19: 36-36. Number of citations: 26

    [doi:10.1186/s12881-018-0548-2]

  • Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)

    BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Number of citations: 5

    [doi:10.1016/j.biopsych.2017.05.028]