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Genètica Molecular Humana I

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Publicacions

  • Canals I, Beneto N, Cozar M, Vilageliu L and Grinberg-Vaisman DR.

    EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.

    SCIENTIFIC REPORTS . 5: 13654-13654. Nº de cites: 22

    [doi:10.1038/srep13654]

  • Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA and Ribasés M.

    Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 480-491. Nº de cites: 12

    [doi:10.1002/ajmg.b.32340]

  • Alemany S, Ribasés M, Vilor-Tejedor N, Bustamante M, Sánchez-Mora C, Bosch R, Richarte V, Cormand B, Casas M, Ramos-Quiroga JA and Sunyer J.

    New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 459-470. Nº de cites: 61

    [doi:10.1002/ajmg.b.32341]

  • Weber H, Kittel-Schneider S, Heupel J, Weißflog L, Kent L, Freudenberg F, Alttoa A, Post A, Herterich S, Haavik J, Halmøy A, Fasmer OB, Landaas ET, Johansson S, Cormand B, Ribasés M, Sánchez-Mora C, Ramos-Quiroga JA, Franke B, Lesch KP and Reif A.

    On the role of NOS1 ex1f-VNTR in ADHD-allelic, subgroup, and meta-analysis.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS . 168(6): 445-458. Nº de cites: 16

    [doi:10.1002/ajmg.b.32326]

  • Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg-Vaisman DR and Vilageliu L.

    Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

    PLoS One . 10(8): . Nº de cites: 28

    [doi:10.1371/journal.pone.0135873]

  • Rodríguez-Sanz M, García-Giralt N, Prieto-Alhambra D, Servitja S, Balcells S, Pecorelli R, Díez-Pérez A, Grinberg-Vaisman DR, Tusquets I and Nogués X.

    CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

    J MOL ENDOCRINOL . 55(1): 69-79. Nº de cites: 23

    [doi:10.1530/JME-15-0079]

  • Dimitriou E, Cozar M, Mavridou I, Grinberg-Vaisman DR, Vilageliu L and Michelakakis H.

    The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

    JIMD Reports . 25: 57-64. Nº de cites: 3

    [doi:10.1007/8904_2015_457]