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Publicacions

  • 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]

  • Vázquez-Costa JF, Branas-Pampillón M, Medina J, Povedano M, Pitarch-Castellano I, López-Lobato M, Fernández-Ramos JA, Lafuente-Hidalgo M, Rojas-García R, Caballero-Caballero JM, Málaga I, Eirís-Puñal J, De Lemus M, Cattinari MG, Cabello-Moruno R, Díaz-Abós P, Sánchez-Menéndez V, Rebollo P, Maurino J and Madruga-Garrido M.

    Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study

    Neurology and Therapy . 12(1): 89-105. Nº de cites: 7

    [doi:10.1007/s40120-022-00411-2]

  • García-García AP, Fortuny-Guasch C, Fumadó V, Jordán-García I, Ruiz-López L, González-Navarro EA, Egri N, Esteve-Solé A, Luo Y, Vlagea A, Manuel Monsonis Cabedo, Launes-Montana C, Soler-García a, Codina-Bergadà A, Juan-Otero M, Pascal-Capdevila R, Deyà-Martinez A and Alsina L.

    Acute and long-term immune responses to SARS-CoV-2 infection in unvaccinated children and young adults with inborn errors of immunity

    FRONTIERS IN IMMUNOLOGY . 14: 1084630-1084630. Nº de cites: 2

    [doi:10.3389/fimmu.2023.1084630]

  • El-Hassar, L, Amara, A, Sanson, B, Lacatus, O, Belhouchet, AA, Kroneman, M, Claeys, K, Plancon, JP, Rodolico, C, Primiano, G, Trojsi, F, Filosto, M, Mongini, TE, Bortolani, S, Monforte, M, Carraro, E, Maggi, L, Ricci, F, Silani, V, Orsucci, D, Créange, A, Péréon, Y, Stojkovic, T, van der Beek, NAME, Toscano, A, Pareyson, D, Attarian, S, Van den Bergh, PYK, Remiche, G, Hoeijmakers, JGJ, Badrising, U, Voermans, NC, Kaindl, AM, Schara-Schmidt, U, Schoser, B, Gazzerro, E, Haberlová, J, Vohánka, S, Pál, E, Molnar, MJ, Leonardis, L, Tournev, IL, Nascimento-Osorio A, Olivé, M, Muelas, N, Alonso-Perez, J, Plá, F, de Visser, M, Siciliano, G and Sacconi, S.

    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

    Journal of neuromuscular diseases . 10(2): 173-184. Nº de cites: 2

    [doi:10.3233/JND-221525]

  • 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]

  • Migliorelli C, Gómez-Martinez M, Subías-Beltrán P, Claramunt-Molet M, Idelsohn-Zielonka S, Mas-Hurtado E, Miralles F, Montolio M, Roselló-Ruano M and Medina J.

    Multidimensional Biomechanics-Based Score to Assess Disease Progression in Duchenne Muscular Dystrophy

    SENSORS . 23(2): . Nº de cites: 1

    [doi:10.3390/s23020831]

  • Goyenvalle A, Jimenez-Mallebrera C, van Roon W, Sewing S, Krieg AM, Arechavala-Gomeza V and Andersson P.

    Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

    NUCLEIC ACID THERAPEUTICS . 33(1): 1-16. Nº de cites: 24

    [doi:10.1089/nat.2022.0061]

  • Candela-Cantó SA, Muchart-Lopez J, Carlos Valera Dávila, Jou-Munoz C, Culebras D, Alamar AM, Becerra V, Artés D, Armero-Campos G, Aparicio J, Hinojosa J and Rumià J.

    Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 31(1): 61-70. Nº de cites: 5

    [doi:10.3171/2022.9.PEDS22258]