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Publications

  • Reverter M, Rentero C, Garcia-Melero A, Hoque M, Vilà de Muga S, Alvarez-Guaita A, Conway JR, Wood P, Cairns R, Lykopoulou L, Grinberg-Vaisman DR, Vilageliu L, Bosch M, Heeren J, Blasi J, Timpson P, Pol A, Tebar F, Murray RZ, Grewal T and Enrich C.

    Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries.

    CELL REPORTS . 7(3): 883-897. Number of citations: 86

    [doi:10.1016/j.celrep.2014.03.043]

  • Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

    PLoS One . 9(4): . Number of citations: 16

    [doi:10.1371/journal.pone.0094607]

  • Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg-Vaisman DR, Valverde MÁ, Fernández-Fernández JM, Macaya A and Cormand B.

    Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

    Molecular genetics & genomic medicine . 1(4): 206-222.

    [doi:10.1002/mgg3.24]

  • Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S and Grinberg-Vaisman DR.

    COL1A1 haplotypes and hip fracture.

    JOURNAL OF BONE AND MINERAL RESEARCH . 27(4): 950-953. Number of citations: 19

    [doi:10.1002/jbmr.1536]

  • Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L and Grinberg-Vaisman DR.

    Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference.

    JIMD Reports . 4: 29-37. Number of citations: 6

    [doi:10.1007/8904_2011_64]

  • 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. Number of citations: 13

    [doi:10.1002/humu.21514]

  • Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S and Grinberg-Vaisman DR.

    Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation.

    JOURNAL OF BONE AND MINERAL RESEARCH . 26(5): 1133-1144. Number of citations: 13

    [doi:10.1002/jbmr.293]

  • 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. Number of citations: 10

    [doi:10.1016/j.ymgme.2010.10.004]

  • Sánchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch-Canut T, Chabás A, Grinberg-Vaisman DR and Vilageliu L.

    Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease.

    BLOOD CELLS MOLECULES AND DISEASES . 42(2): 159-166. Number of citations: 37

    [doi:10.1016/j.bcmd.2008.11.002]

  • Grinberg-Vaisman DR.

    Recent patents relating to siRNAs and therapeutic strategies for genetic diseases.

    Recent Patents on DNA and Gene Sequences . 2(1): 40-43.

    [doi:10.2174/187221508783406530]