Research

Human Molecular Genetics I

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Publications

  • De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg-Vaisman DR, García-Giralt N and Díez-Pérez A.

    Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.

    BMC MEDICAL GENOMICS . 10(1): 36-36. Number of citations: 2

    [doi:10.1186/s12920-017-0272-3]

  • Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg-Vaisman DR, Vilageliu L, Casas J, Bodlenner A, Delgado A and Compain P.

    Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on ß-glucocerebrosidase activity.

    ORG BIOMOL CHEM . 15(17): 3681-3705. Number of citations: 9

    [doi:10.1039/c7ob00443e]

  • Sintas C, Fernàndez-Castillo N, Vila-Pueyo M, Pozo-Rosich P, Macaya A and Cormand B.

    Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs.

    JOURNAL OF PAIN . 18(4): 366-375. Number of citations: 4

    [doi:10.1016/j.jpain.2016.11.007]

  • Urreizti R, Cueto-Gonzalez, Ana Maria, Franco-Valls, Héctor, Mort-Farre, Silvia, Roca N, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio M, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo, Cormand B, Vilageliu L, Opitz, John, Neri, Giovanni, Grinberg-Vaisman DR and Balcells S.

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.

    SCIENTIFIC REPORTS . 7: 44138-44138. Number of citations: 28

    [doi:10.1038/srep44138]

  • Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L and Grinberg-Vaisman DR.

    New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.

    SCIENTIFIC REPORTS . 7: 41931-41931. Number of citations: 24

    [doi:10.1038/srep41931]

  • Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg-Vaisman DR, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D and Michelakakis H.

    The Spectrum of Niemann-Pick Type C Disease in Greece.

    JIMD Reports . 36: 41-48. Number of citations: 9

    [doi:10.1007/8904_2016_41]

  • Vilageliu L and Grinberg-Vaisman DR.

    Involvement of Gaucher Disease Mutations in Parkinson Disease.

    CURR PROTEIN PEPT SC . 18(7): 758-764. Number of citations: 5

    [doi:10.2174/1389203717666160311115956]

  • Pagerols M, Richarte V, Sánchez-Mora C, Garcia-Martínez I, Corrales M, Corominas M, Cormand B, Casas M, Ribasés M and Ramos-Quiroga JA.

    Pharmacogenetics of methylphenidate response and tolerability in attention-deficit/hyperactivity disorder.

    PHARMACOGENOMICS JOURNAL . 17(1): 98-104. Number of citations: 19

    [doi:10.1038/tpj.2015.89]

  • De-Castro M, Tonda R, Escudero-Ferruz P, Andres R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodríguez-Ezcurra JJ, Farrando J, Pérez-Santonja JJ, Cormand B, Marfany G and Gonzalez R.

    Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

    PLoS One . 11(12): . Number of citations: 39

    [doi:10.1371/journal.pone.0168966]

  • Zayats T, Jacobsen KK, Kleppe R, Jacob CP, Kittel-Schneider S, Ribasés M, Ramos-Quiroga JA, Richarte V, Casas M, Mota NR, Grevet EH, Klein M, Corominas J, Bralten J, Galesloot T, Vasquez AA, Herms S, Forstner AJ, Larsson H, Breen G, Asherson P, Gross-Lesch S, Lesch KP, Cichon S, Gabrielsen MB, Holmen OL, Bau CH, Buitelaar J, Kiemeney L, Faraone SV, Cormand B, Franke B, Reif A, Haavik J and Johansson S.

    Exome chip analyses in adult attention deficit hyperactivity disorder.

    TRANSLATIONAL PSYCHIATRY . 6(10): . Number of citations: 24

    [doi:10.1038/tp.2016.196]