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Publications

  • Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg-Vaisman DR, García-Giralt N, Martinez-Gil N, Castejón S, González-Lizarán A, Balcells S and Diez-Perez A.

    Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.

    OSTEOPOROSIS INTERNATIONAL . 28(12): 3489-3493. Number of citations: 5

    [doi:10.1007/s00198-017-4198-6]

  • 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]

  • 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]

  • Urreizti R, Roca N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S and Grinberg-Vaisman DR.

    Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 170A(1): 24-31. Number of citations: 11

    [doi:10.1002/ajmg.a.37418]

  • 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.

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

    BMC MEDICAL GENOMICS . 8: 75-75. Number of citations: 79

    [doi:10.1186/s12920-015-0149-2]

  • Canals I, Soriano J, Orlandi JG, Torrent R, Richaud-Patin Y, Jiménez-Delgado S, Merlin S, Follenzi A, Consiglio A, Vilageliu L, Grinberg-Vaisman DR and Raya A.

    Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.

    STEM CELL REPORTS . 5(4): 546-557. Number of citations: 25

    [doi:10.1016/j.stemcr.2015.08.016]