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Investigació aplicada en malalties neuromusculars

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Publicacions

  • Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, de Groot IJM, Katsalouli M, James MK, van den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ and Hoffman EP.

    Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy A Randomized Clinical Trial

    JAMA NEUROLOGY . 79(10): 1005-1014. Nº de cites: 10

    [doi:10.1001/jamaneurol.2022.2480]

  • Vidal-Sanahuja R, Ortez-Gonzalez CI, Nascimento-Osorio A and Colomer J.

    McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

    REVISTA DE NEUROLOGIA . 75(6): 129-136.

    [doi:10.33588/rn.7506.2022212]

  • 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: 7

    [doi:10.1111/ene.15542]

  • Ortigoza-Escobar JD, Fernández de Sevilla-Estrach M, Monfort L, Anton-Lopez J, Iglesias-Jimenez E, Rebollo M, Cristina Del prado Sanchez, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou-Munoz C and Català-Temprano A.

    Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant

    JOURNAL OF NEUROIMMUNOLOGY . 369: 577917-577917.

    [doi:10.1016/j.jneuroim.2022.577917]

  • Castroflorio E, Pérez Berná AJ, López-Marquez A, Badosa-Gallego MC, Loza-Alvarez P, Roldan-Molina M and Jimenez-Mallebrera C.

    The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(14): 1-15. Nº de cites: 3

    [doi:10.3390/ijms23147651]

  • 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: 11

    [doi:10.1111/ene.15501]

  • 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: 1

    [doi:10.3390/biomedicines10061372]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de cites: 1

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de cites: 6

    [doi:10.1111/cge.14113]

  • 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]