Recerca

Neurogenètica i Medicina Molecular

Buscador de publicacions

Publicacions

  • Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.

    Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    ACTA NEUROPATHOLOGICA . 145(4): 479-496. Nº de cites: 2

    [doi:10.1007/s00401-023-02551-7]

  • López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.

    A crowdsourcing database for the copy-number variation of the Spanish population

    HUMAN GENOMICS . 17(1): 20-20. Nº de cites: 2

    [doi:10.1186/s40246-023-00466-8]

  • Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.

    Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

    Annals of Clinical and Translational Neurology . 10(3): 408-425. Nº de cites: 3

    [doi:10.1002/acn3.51731]

  • Coronado-Parra T, Roldan-Molina M and Aboal M.

    Autofluorescence Imaging to Evaluate Red Algae Physiology

    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS . (192): .

    [doi:10.3791/64533]

  • López-Ramos MG, Vinent-Genestar J, Aarnoutse R, Colbers A, Velasco E, Martorell-Sampol L, Falcón-Neyra L, Neth O, Prieto L, Guillén S, Baquero-Artigao F, Méndez-Echevarría A, Gómez-Pastrana D, Jiménez AB, Lahoz R, Ramos-Amador JT, Soriano-Arandes A, Santiago B, Rosa Farré Riba, Fortuny-Guasch C, Soy D and Noguera-Julián A.

    Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age

    ANTIBIOTICS-BASEL . 12(2): .

    [doi:10.3390/antibiotics12020272]

  • Figuerola-Bou E, Rios-Astorch C, Blanco E, Sanchez-Jimenez M, Táboas-Outón P, Fernandez-Isern G, Gomez-Gonzalez S, Muñoz-Aznar O, Castellano P, Pérez-Jaume S, Prada-Varela E, Mateo-Lozano S, Riggi N, Avgustinova A, Lavarino C, Di Croce L, Sánchez-Molina S and Mora J.

    KDM6 demethylases mediate EWSR1-FLI1-driven oncogenic transformation in Ewing Sarcoma

    Biorxiv . : .

    [doi:10.1101/2023.01.24.524910]

  • Pijuan-Marquilles J, Macià A and Panosa A.

    Live Cell Adhesion, Migration, and Invasion Assays.

    Methods In Molecular Biology (clifton, N.J.) . 2644: 313-329. Nº de cites: 1

    [doi:10.1007/978-1-0716-3052-5_20]

  • Parada-Avendaño I, Salvador-Hernandez H, García RG, Martorell-Sampol L, García-Fontecha CG, Torner-Rubies F and Pérez-López LM.

    Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons

    Joint Diseases and Related Surgery . 34(1): 3-8. Nº de cites: 1

    [doi:10.52312/jdrs.2023.903]

  • Lopez-Mejia, Isabel C, Pijuan-Marquilles J, Navaridas, Raul, Santacana, Maria, Gatius, Sonia, Velasco, Ana, Castella, Gerard, Panosa, Anais, Cabiscol, Elisa, Pinyol, Miquel, Coll, Laura, Bonifaci, Nuria, Pena, Laura Plata, Vidal, August, Villanueva, Alberto, Gari, Eloi, Llobet-Navas, David, Fajas, Lluis, Matias-Guiu, Xavier and Yeramian, Andree.

    Oxidative stress-induced FAK activation contributes to uterine serous carcinoma aggressiveness

    MOLECULAR ONCOLOGY . 17(1): 98-118. Nº de cites: 10

    [doi:10.1002/1878-0261.13346]

  • Lorenzo D, Esquerda-Areste M, Palau F, Cambra-Lasaosa FJ and Grup Investigació en Bioética.

    Ethics and Genomic Editing Using the Crispr-Cas9 Technique: Challenges and Conflicts

    NanoEthics . 16(3): 313-321. Nº de cites: 5

    [doi:10.1007/s11569-022-00425-y]