Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • 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 citas: 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 citas: 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 citas: 27

    [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 citas: 5

    [doi:10.3171/2022.9.PEDS22258]

  • 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 citas: 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 citas: 17

    [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 citas: 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 citas: 18

    [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 citas: 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 citas: 44

    [doi:10.1001/jamaneurol.2022.2480]