Research

Human Molecular Genetics I

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Publications

  • Garcia-Martínez I, Sánchez-Mora C, Soler Artigas M, Rovira P, Pagerols M, Corrales M, Calvo-Sánchez E, Richarte V, Bustamante M, Sunyer J, Cormand B, Casas M, Ramos-Quiroga JA and Ribasés M.

    Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.

    SCIENTIFIC REPORTS . 7(1): 5407-5407. Number of citations: 11

    [doi:10.1038/s41598-017-05514-7]

  • Sintas C, Carreño O, Fernandez-Castillo N, Corominas R, Vila-Pueyo M, Toma C, Cuenca-León E, Barroeta I, Roig C, Volpini V, Macaya A and Cormand B.

    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

    SCIENTIFIC REPORTS . 7(1): 2514-2514. Number of citations: 32

    [doi:10.1038/s41598-017-02554-x]

  • 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: 10

    [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: 29

    [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]