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Investigació aplicada en malalties neuromusculars

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Publicacions

  • Domínguez-González C, Díaz-Marín C, Juntas-Morales R, Nascimento-Osorio A, Rivera-Gallego A and Díaz-Manera J.

    Survey on the management of Pompe disease in routine clinical practice in Spain

    ORPHANET JOURNAL OF RARE DISEASES . 17(1): 426-426. Nº de cites: 2

    [doi:10.1186/s13023-022-02574-5]

  • 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]

  • Mele-Casas M, Launes-Montana C, Fernández de Sevilla-Estrach M, Hernandez-Garcia M, Pons-Tomas G, Bassat Q, Fumadó V, Fortuny-Guasch C, Garcia-Miquel A, Bonet E, Prats C, Ajanovic S, Cubells M, Claverol J, Penela-Sanchez D, Jou-Munoz C, Arias S, Balanza N, Baro B, Millat-Martinez P, Alonso S, Alvarez-Lacalle E, Catala M, Cuadras-Palleja D, Munoz-Almagro C, Gratacós E, Jordán-García I and García-García JJ.

    Low transmission of SARS-CoV-2 derived from children in family clusters: An observational study of family households in the Barcelona Metropolitan Area, Spain

    PLoS One . 17(11): . Nº de cites: 3

    [doi:10.1371/journal.pone.0277754]

  • 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]

  • 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: 42

    [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]

  • Ortigoza-Escobar JD, Fernández de Sevilla-Estrach M, Monfort L, Anton-Lopez J, Iglesias-Jimenez E, Rebollo M, Del Prado-Sanchez C, 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. Nº de cites: 3

    [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]

  • 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]