People / Staff

Daniel Natera de Benito

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Publications

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Domínguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Number of citations: 11

    [doi:10.1136/jmg-2022-109132]

  • Exposito-Escudero JM, Natera-de Benito D, Carrera-García L, Armijo JA, Rios A, Nascimento-Osorio A and Ortez-Gonzalez CI.

    Gene therapy: Where are we? Where are we going?

    MEDICINA-BUENOS AIRES . 83: 13-17. Number of citations: 1

  • Suárez-Calvet X, Fernández-Simón E, Natera-de Benito D, Jou-Munoz C, Pinol-Jurado P, Villalobos E, Ortez-Gonzalez CI, Monceau A, Schiava M, Codina-Bergadà A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento-Osorio A and Diaz-Manera J.

    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    CELL DEATH & DISEASE . 14(9): 596-596. Number of citations: 22

    [doi:10.1038/s41419-023-06103-5]

  • Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E, Campo-Barasoain A, Madruga M, Ortez-Gonzalez CI, Natera-de Benito D, Nascimento-Osorio A, Codina-Bergadà A, Rodriguez MJ, Gallano P and Gonzalez-Quereda L.

    Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events

    JOURNAL OF MEDICAL GENETICS . 60(6): 615-619. Number of citations: 13

    [doi:10.1136/jmg-2022-108828]

  • 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]

  • 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. Number of citations: 8

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

  • César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.

    LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

    Frontiers in Genetics . 14: 1135438-1135438. Number of citations: 5

    [doi:10.3389/fgene.2023.1135438]

  • César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G.

    Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

    Frontiers in Cell and Developmental Biology . 11: 1142937-1142937. Number of citations: 4

    [doi:10.3389/fcell.2023.1142937]

  • 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. Number of citations: 7

    [doi:10.1002/acn3.51731]

  • Rodríguez Cruz PM, Ravenscroft G, Natera-de Benito D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento-Osorio A, Muntoni F, Polavarapu K, Lochmüller H, Palace J and Beeson D.

    A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

    NEUROMUSCULAR DISORDERS . 33(2): 161-168. Number of citations: 5

    [doi:10.1016/j.nmd.2022.12.011]