Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Codina-Bergadà A, Roldan-Molina M, Natera-de Benito D, Ortez-Gonzalez CI, Planas R, Matalonga L, Cuadras-Palleja D, Carrera-García L, Exposito-Escudero JM, Márquez-Pereira JM, Jimenez-Mallebrera C, M Porta J, Nascimento-Osorio A and Jou-Munoz C.

    Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): .

    [doi:10.3390/ijms24076358]

  • Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.

    Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites

    BIOLOGY OPEN . 12(4): . Nº de citas: 1

    [doi:10.1242/bio.059707]

  • 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.

    [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 citas: 1

    [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.

    [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]

  • 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 citas: 1

    [doi:10.52312/jdrs.2023.903]

  • 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 citas: 1

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