Research

Neurogenetics and Molecular Medicine

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Publications

  • Castillo H, Monterrubio C, Pascual-Pastó G, Gomez-Gonzalez S, Garcia-Dominguez DJ, Hontecillas-Prieto L, Resa-Parés C, Burgeño-Sandoval V, Paco-Mercader S, Gene-Olaciregui N, Vilà-Ubach M, Restrepo-Perdomo C, Cuadrado-Vilanova M, Balaguer-Lluna L, Pérez-Jaume S, Castañeda-Heredia A, Santa-María López V, Roldan-Molina M, Suñol M, de Alava E, Mora J, Lavarino C and Carcaboso AM.

    Treatment-driven selection of chemoresistant Ewing sarcoma tumors with limited drug distribution

    JOURNAL OF CONTROLLED RELEASE . 324: 440-449. Number of citations: 7

    [doi:10.1016/j.jconrel.2020.05.032]

  • Rey-Barroso L, Roldan-Molina M, Burgos-Fernández FJ, Gassiot S, Ruiz-Llobet A, Isola I and Vilaseca MA.

    Spectroscopic Evaluation of Red Blood Cells of Thalassemia Patients with Confocal Microscopy: A Pilot Study

    SENSORS . 20(14): . Number of citations: 6

    [doi:10.3390/s20144039]

  • Moncunill G, Scholzen A, Mpina M, Nhabomba A, Hounkpatin AB, Osaba L, Valls R, Campo JJ, Sanz H, Jairoce C, Williams NA, Pasini EM, Arteta D, Maynou-Fernández J, Palacios L, Duran-Frigola M, Aponte JJ, Kocken CHM, Agnandji ST, Mas JM, Mordmüller B, Daubenberger C, Sauerwein R and Dobaño C.

    Antigen-stimulated PBMC transcriptional protective signatures for malaria immunization.

    SCIENCE TRANSLATIONAL MEDICINE . 12(543): . Number of citations: 29

    [doi:10.1126/scitranslmed.aay8924]

  • Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB and International Parkinson's Disease Genomics Consortium (IPDGC).

    Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score

    MOVEMENT DISORDERS . 35(5): 774-780. Number of citations: 52

    [doi:10.1002/mds.27974]

  • Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z and International Parkinson's Disease Genomic Consortium (IPDGC).

    Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease

    JOURNAL OF MEDICAL GENETICS . 57(5): 331-338. Number of citations: 43

    [doi:10.1136/jmedgenet-2019-106283]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    Epilepsia . 61(5): 971-983. Number of citations: 18

    [doi:10.1111/epi.16493]

  • Koeneke A, Ponce G, Troya-Balseca J, Palomo T and Hoenicka J.

    Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(7): . Number of citations: 18

    [doi:10.3390/ijms21072516]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Number of citations: 19

    [doi:10.1111/cge.13718]

  • Gutiérrez-Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell-Sampol L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G and Gutiérrez-Rivas E.

    Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

    Neurologia . 35(3): 185-206. Number of citations: 27

    [doi:10.1016/j.nrl.2019.01.001]

  • Muñoz-Lasso DC, Mollá B, Calap-Quintana P, García-Giménez JL, Pallardo FV, Palau F and Gonzalez-Cabo P.

    Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.

    SCIENTIFIC REPORTS . 10(1): 5207-5207. Number of citations: 12

    [doi:10.1038/s41598-020-62050-7]