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Publicaciones

  • Vos N, Reilly J, Elting MW, Campeau PM, Coman D, Stark Z, Tan TY, Amor DJ, Kaur S, StJohn M, Morgan AT, Kamien BA, Patel C, Tedder ML, Merla G, Prontera P, Castori M, Muru K, Collins F, Christodoulou J, Smith J, Zeev BB, Murgia A, Leonardi E, Esber N, Martinez-Monseny T, Casas-Alba D, Wallis M, Mannens M, Levy MA, Relator R, Alders M and Sadikovic B.

    DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants

    EPIGENOMICS . 15(6): 351-368. Nº de citas: 2

    [doi:10.2217/epi-2023-0079]

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

    Membrane Protein Detection and Morphological Analysis of Red Blood Cells in Hereditary Spherocytosis by Confocal Laser Scanning Microscopy

    Microscopy and Microanalysis . 29(2): 777-785. Nº de citas: 1

    [doi:10.1093/micmic/ozac055]

  • 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]

  • Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.

    Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

    Movement Disorders Clinical Practice . 10(4): 547-557. Nº de citas: 1

    [doi:10.1002/mdc3.13711]

  • 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]

  • Vila E, Pinacho R, Prades R, Tarragó T, Castro E, Munarriz-Cuezva E, Meana JJ, Eugui-Anta A, Roldan-Molina M, Vera-Montecinos A and Ramos B.

    Inhibition of Prolyl Oligopeptidase Restores Prohibitin 2 Levels in Psychosis Models: Relationship to Cognitive Deficits in Schizophrenia

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(7): . Nº de citas: 2

    [doi:10.3390/ijms24076016]

  • 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 citas: 1

    [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: 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 citas: 1

    [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]