Recerca

Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • Cortés-Saladelafont E, Molero M, Ormazabal-Herrero A, Tristan-Noguero A, Sierra-March C, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.

    Diagnosis of Biogenic Amines Synthesis Defects

    Journal of Pediatric Neurology . 13(4): 186-197. Nº de cites: 2

    [doi:10.1055/s-0035-1558865]

  • Koeneke A, Ponce G, Hoenicka J and Huertas E.

    The ANKK1/DRD2 locus is a genomic substrate for affective priming and recognition of angry faces.

    BRAIN AND BEHAVIOR . 5(11): . Nº de cites: 2

    [doi:10.1002/brb3.405]

  • Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong-Moron J, Sebastião AM, Gribnau J, Garcia-Cazorla A, Brüstle O, Henrique D, Cabral JM and Diogo MM.

    Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells

    BIOTECHNOLOGY JOURNAL . 10(10): 1578-1588. Nº de cites: 25

    [doi:10.1002/biot.201400751]

  • 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]

  • Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Nº de cites: 203

    [doi:10.1136/jmedgenet-2015-103087]

  • Martinez-Monseny T, Bobillo-Perez S, Martínez Planas A and García-García JJ.

    The role of complementary examinations and home monitoring in patients at risk from apparent life threatening event, apneas and sudden infant death syndrome

    ANALES DE PEDIATRIA . 83(2): 104-108.

    [doi:10.1016/j.anpedi.2014.11.010]

  • Calpena, E., Palau F, Espinós, C. and Galindo, M.I..

    Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

    PLoS One . 10(7): . Nº de cites: 16

    [doi:10.1371/journal.pone.0134106]

  • Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell-Burriel M, Naudo-Lahoz M, Camós-Guijosa M and Rives-Solà S.

    Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening

    PEDIATRIC BLOOD & CANCER . 62(7): 1195-1201. Nº de cites: 8

    [doi:10.1002/pbc.25457]

  • 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]