Persones / Equip Humà

Daniel Raúl Grinberg Vaisman

Buscador de publicacions

Publicacions

  • Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg-Vaisman DR, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G, AOGC Consortium, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM, UK10K Consortium, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F and Richards JB.

    Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.

    Nature . 526(7571): 112-117. Nº de cites: 416

    [doi:10.1038/nature14878]

  • 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]

  • 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]

  • Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg-Vaisman DR and Ezquieta B.

    Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes.

    MEDICINA CLINICA . 144(2): 67-72. Nº de cites: 2

    [doi:10.1016/j.medcli.2014.06.009]

  • Matos L, Canals I, Dridi L, Choi Y, Prata MJ, Jordan P, Desviat LR, Pérez-Dueñas B, Pshezhetsky AV, Grinberg-Vaisman DR, Alves S and Vilageliu L.

    Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

    ORPHANET JOURNAL OF RARE DISEASES . 9: 180-180. Nº de cites: 40

    [doi:10.1186/s13023-014-0180-y]

  • Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg-Vaisman DR and Asteggiano CG.

    A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

    SCIENTIFIC REPORTS . 4: 6407-6407. Nº de cites: 16

    [doi:10.1038/srep06407]

  • Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg-Vaisman DR, Vilageliu L and Casas J.

    Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

    INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY . 54: 245-254. Nº de cites: 8

    [doi:10.1016/j.biocel.2014.07.017]

  • Serra-Vinardell J, Díaz L, Casas J, Grinberg-Vaisman DR, Vilageliu L, Michelakakis H, Mavridou I, Aerts JM, Decroocq C, Compain P and Delgado A.

    Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of a-1-C-substituted imino-D-xylitols (DIXs) by click chemistry.

    Chemmedchem . 9(8): 1744-1754. Nº de cites: 15

    [doi:10.1002/cmdc.201402023]