Persones / Equip Humà

Daniel Natera de Benito

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 4

    [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. Nº de cites: 3

    [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. Nº de cites: 1

    [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. Nº de cites: 2

    [doi:10.1016/j.nmd.2022.12.011]

  • Trifunov S, Natera-de Benito D, Carrera-García L, Codina-Bergadà A, Exposito-Escudero JM, Ortez-Gonzalez CI, Medina J, Torres Alcala S, Bernal S, Alias L, Badosa-Gallego MC, Balsells S, Alcolea D, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

    Journal of neuromuscular diseases . 10(4): 653-665. Nº de cites: 5

    [doi:10.3233/JND-230012]

  • Vázquez-Costa JF, Povedano M, Nascimento-Osorio A, Escribano AM, Garcia SK, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D.

    Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

    EUROPEAN JOURNAL OF NEUROLOGY . 29(12): 3666-3675. Nº de cites: 16

    [doi:10.1111/ene.15542]

  • Vázquez-Costa JF, Povedano M, Nascimento-Osorio A, Moreno Escribano A, Kapetanovic Garcia S, Dominguez R, Exposito-Escudero JM, González L, Marco C, Medina J, Muelas N, Natera-de Benito D, Ñungo Garzón NC, Pitarch Castellano I, Sevilla T and Hervás D.

    Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study

    EUROPEAN JOURNAL OF NEUROLOGY . 29(11): 3337-3346. Nº de cites: 17

    [doi:10.1111/ene.15501]

  • Jou-Munoz C, Nascimento-Osorio A, Codina-Bergadà A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero-Sanchez R, Natera-de Benito D, Ortez-Gonzalez CI, Márquez-Pereira JM, Zelaya MV, Gutierrez-Mata A, Badosa-Gallego MC, Carrera-García L, Exposito-Escudero JM, Roldan-Molina M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Pathological Features in Paediatric Patients with TK2 Deficiency

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11002. Nº de cites: 1

    [doi:10.3390/ijms231911002]

  • Koehorst E, Odria R, Capó J, Núñez-Manchón J, Arbex A, Almendrote M, Linares-Pardo I, Natera-de Benito D, Saez V, Nascimento-Osorio A, Ortez-Gonzalez CI, Rubio MÁ, Díaz-Manera J, Alonso-Pérez J, Lucente G, Rodriguez-Palmero A, Ramos-Fransi A, Martínez-Piñeiro A, Nogales-Gadea G and Suelves M.

    An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

    Biomedicines . 10(6): 1372. Nº de cites: 2

    [doi:10.3390/biomedicines10061372]

  • Almici E, Chiappini V, López-Marquez A, Badosa-Gallego MC, Blázquez B, Caballero D, Montero J, Natera-de Benito D, Nascimento-Osorio A, Roldan-Molina M, Lagunas A, Jimenez-Mallebrera C and Samitier J.

    Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

    Frontiers in Bioengineering and Biotechnology . 10: 851825-851825. Nº de cites: 3

    [doi:10.3389/fbioe.2022.851825]