People / Staff

Judith Silvia Armstrong Morón

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Publications

  • Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.

    Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC PEDIATRICS . 14: 284-284. Number of citations: 13

    [doi:10.1186/s12887-014-0284-5]

  • Rodrigues F, Grenha J, Ortez-Gonzalez CI, Nascimento-Osorio A, Morte B, M-Belinchón M, Armstrong-Moron J and Colomer J.

    Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

    BMC PEDIATRICS . 14: 252-252. Number of citations: 15

    [doi:10.1186/1471-2431-14-252]

  • Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong-Moron J, Castiñeiras D and Cocho JA.

    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    ORPHANET JOURNAL OF RARE DISEASES . 9: 59-59. Number of citations: 40

    [doi:10.1186/1750-1172-9-59]

  • Turon-Vinas E, Pineda M, Cusi V, Lopez-Laso E, Del Pozo RL, Gutierrez-Solana LG, Moreno DC, Sierra-Corcoles C, Olabarrieta-Hoyos N, Madruga-Garrido M, Aguirre-Rodriguez J, González V, O'Callaghan-Gordo M, Muchart-Lopez J and Armstrong-Moron J.

    Vanishing white matter disease in a spanish population.

    Journal of Central Nervous System Disease . 6: 59-68. Number of citations: 15

    [doi:10.4137/JCNSD.S13540]

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Number of citations: 60

    [doi:10.1371/journal.pone.0068851]

  • Roche-Martinez A, Turón M, Callejón L, Elisenda Solé Heuberger, Armstrong-Moron J and Pineda M.

    Treatment Response in Behaviour Disorders in Rett Syndrome

    Journal of Behavioral and Brain Science . 3(2): 217-224.

  • Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch-Iriberri R, Martorell-Sampol L, Armstrong-Moron J, Anton-Lopez J, Torner-Rubies F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S and Grinberg D.

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    SCIENTIFIC REPORTS . 3: 1346-1346. Number of citations: 45

    [doi:10.1038/srep01346]

  • Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong-Moron J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A and Renieri A.

    Rett networked database: An integrated clinical and genetic network of rett syndrome databases

    HUMAN MUTATION . 33(7): 1031-1036. Number of citations: 14

    [doi:10.1002/humu.22072]

  • Roche-Martinez A, Armstrong-Moron J, Gerotina E, Fons-Estupina C, Campistol-Plana J and Pineda M.

    CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain

    Journal of Pediatric Epilepsy . 1(1): 27-35.

    [doi:10.3233/PEP-2012-005]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    JIMD Reports . 4: 13-16. Number of citations: 4

    [doi:10.1007/8904_2011_41]