Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, 23andMe Research Team, System Genomics of Parkinson's Disease Consortium and International Parkinson's Disease Genomics Consortium.

    Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

    LANCET NEUROLOGY . 18(12): 1091-1102. Nº de citas: 1226

    [doi:10.1016/S1474-4422(19)30320-5]

  • Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL, American Genome Center, Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-Escrig A, Duarte J, Vives F, Duran R, Hoenicka J, Alvarez V, Infante J, Marti MJ, Clarimón J, López de Munain A, Pastor P, Mir P, Singleton A and International Parkinson Disease Genomics Consortium.

    The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

    MOVEMENT DISORDERS . 34(12): 1851-1863. Nº de citas: 40

    [doi:10.1002/mds.27864]

  • Bazaga A, Roldan-Molina M, Badosa-Gallego MC, Jimenez-Mallebrera C and Porta JM.

    A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies

    APPLIED SOFT COMPUTING . 85: 105772. Nº de citas: 5

    [doi:10.1016/j.asoc.2019.105772]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de citas: 8

    [doi:10.1002/ajmg.a.61357]

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Nº de citas: 9

    [doi:10.1186/s12987-019-0154-5]

  • Sala R, Sánchez-García L, Serna N, Céspedes MV, Casanova I, Roldan-Molina M, Sánchez-Chardi A, Unzueta U, Vázquez E, Mangues R and Villaverde A.

    Collaborative membrane activity and receptor-dependent tumor cell targeting for precise nanoparticle delivery in CXCR4(+) colorectal cancer

    ACTA BIOMATERIALIA . 99: 426-432. Nº de citas: 13

    [doi:10.1016/j.actbio.2019.09.002]

  • Fernandez-Lizarbe S, Civera-Tregon A, Cantarero-Abad L, Herrer I, Juarez P, Hoenicka J and Palau F.

    Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1

    EXPERIMENTAL NEUROLOGY . 320: 113004-113004. Nº de citas: 23

    [doi:10.1016/j.expneurol.2019.113004]

  • Martín-Doncel E, Rojas AM, Cantarero-Abad L and Lazo PA.

    VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes

    SCIENTIFIC REPORTS . 9: 13381-13381. Nº de citas: 21

    [doi:10.1038/s41598-019-49821-7]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de citas: 15

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M and Armstrong-Moron J.

    Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

    Molecular genetics & genomic medicine . 7(8): . Nº de citas: 5

    [doi:10.1002/mgg3.793]