Persones / Equip Humà

Judith Silvia Armstrong Morón

Buscador de publicacions

Publicacions

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de cites: 13

    [doi:10.1586/14737159.2015.1062727]

  • Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong-Moron J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J and Ben-Zeev B.

    Epilepsy in Rett syndrome-Lessons from the Rett networked database

    Epilepsia . 56(4): 569-576. Nº de cites: 39

    [doi:10.1111/epi.12941]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de cites: 17

    [doi:10.3389/fgene.2015.00102]

  • Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D, SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL and Lapunzina P.

    A New Overgrowth Syndrome is due to Mutations in RNF125

    HUMAN MUTATION . 35(12): 1436-1441. Nº de cites: 32

    [doi:10.1002/humu.22689]

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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): . Nº de cites: 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.