Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.

    De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

    AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Nº de citas: 25

    [doi:10.1016/j.ajhg.2020.08.015]

  • Dal-Ré R, Palau F, Guillén-Navarro E and Ayuso C.

    Participant-funded clinical trials on rare diseases

    ANALES DE PEDIATRIA . 93(4): . Nº de citas: 3

    [doi:10.1016/j.anpedi.2020.03.019]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de citas: 12

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Huerta-Ramos ME, Labad J, Cobo JV, Nuñez C, Creus M, García-Parés G, Cuadras-Palleja D, Franco J, Miquel E, Reyes JC, Marcó-García S, RALOPSYCAT Group and Usall J.

    Effects of raloxifene on cognition in postmenopausal women with schizophrenia: a 24-week double-blind, randomized, parallel, placebo-controlled trial.

    European archives of psychiatry and clinical neuroscience . 270(6): 729-737. Nº de citas: 14

    [doi:10.1007/s00406-019-01079-w]

  • 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. Nº de citas: 6

    [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): . Nº de citas: 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): . Nº de citas: 23

    [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. Nº de citas: 42

    [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. Nº de citas: 21

    [doi:10.1136/jmedgenet-2019-106283]

  • 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): . Nº de citas: 11

    [doi:10.3390/ijms21072516]