Buscador de publicaciones

Publicaciones

  • Martinez N, Mellibovsky L, Manzano-López González D, Patiño JD, Cozar M, Raquel Rabionet Janssen, Grinberg-Vaisman DR and Balcells S.

    On the association between Chiari malformation type 1, bone mineral density and bone related genes

    Bone Reports . 16: 101181-101181.

    [doi:10.1016/j.bonr.2022.101181]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493.

    [doi:10.1111/cge.14113]

  • Martinez N, Roca N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg-Vaisman DR and Balcells S.

    Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(2): 489.

    [doi:10.3390/ijms22020489]

  • Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg-Vaisman DR, Mavridou I and Michelakakis H.

    Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

    Molecular genetics and metabolism reports . 24: 100614-100614. Nº de citas: 3

    [doi:10.1016/j.ymgmr.2020.100614]

  • Beneto N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg-Vaisman DR, Vilageliu L and Canals I.

    Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.

    Journal of Clinical Medicine . 9(3): . Nº de citas: 6

    [doi:10.3390/jcm9030644]

  • Beneto N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.

    STEM CELL RESEARCH . 42: 101668-101668. Nº de citas: 2

    [doi:10.1016/j.scr.2019.101668]

  • Beneto N, Cozar M, García-Morant M, Creus-Bachiller E, Vilageliu L, Grinberg-Vaisman DR and Canals I.

    Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

    STEM CELL RESEARCH . 41: 101616-101616. Nº de citas: 5

    [doi:10.1016/j.scr.2019.101616]

  • Roca N, Martinez N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg-Vaisman DR and Balcells S.

    Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

    Bone . 123: 39-47. Nº de citas: 7

    [doi:10.1016/j.bone.2019.03.014]

  • Roca N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg-Vaisman DR, Balcells S and Díez-Pérez A.

    Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone-Relevant Cell Types.

    JOURNAL OF BONE AND MINERAL RESEARCH . 33(12): 2091-2098. Nº de citas: 14

    [doi:10.1002/jbmr.3580]

  • Pineda L, Cabana J, Roncero C, Cozar M, Grau-López L, Abad AC, Martínez-Luna N, Robles-Martínez M, Sánchez-Mora C, Ramos-Quiroga JA, Casas M, Ribasés M, Fernandez N and Cormand B.

    Evaluation of previous substance dependence genome-wide significant findings in a Spanish sample.

    DRUG AND ALCOHOL DEPENDENCE . 187: 358-362. Nº de citas: 3

    [doi:10.1016/j.drugalcdep.2018.03.013]