Personas / Equipo Humano

Mónica Cozar Morillo

Buscador de publicaciones

Publicaciones

  • Cammarata-Scalisi F, Stock F, Avendaño A, Cozar M, Balcells S and Grinberg-Vaisman DR.

    Estudio clínico y molecular en una familia con osteocondromatosis mltiple.

    Acta ortopédica mexicana . 32(2): 108-111.

  • 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 citas: 20

    [doi:10.1038/srep13654]

  • 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 citas: 28

    [doi:10.1371/journal.pone.0135873]

  • 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 citas: 3

    [doi:10.1007/8904_2015_457]

  • Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg-Vaisman DR and Balcells S.

    Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

    HUMAN MUTATION . 32(7): 835-842. Nº de citas: 13

    [doi:10.1002/humu.21514]

  • Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg-Vaisman DR and Dardis A.

    Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event.

    MOLECULAR GENETICS AND METABOLISM . 102(2): 226-228. Nº de citas: 10

    [doi:10.1016/j.ymgme.2010.10.004]