Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D.

    Epilepsy in Duchenne and Becker muscular dystrophies

    Annals of Clinical and Translational Neurology . 11(6): 1456-1464. Nº de citas: 1

    [doi:10.1002/acn3.52058]

  • Mora J, Climent A, Roldan-Molina M, Flores MC, Varo A, Pérez-Jaume S, Jou-Munoz C, Celma MS, Lazaro JJ, Cheung I, Castañeda-Heredia A, Gorostegui M, Rodriguez E, Chamorro S, Muñoz JP and Cheung NK.

    Desensitizing the autonomic nervous system to mitigate anti-GD2 monoclonal antibody side effects

    Frontiers in oncology . 14: 1380917-1380917.

    [doi:10.3389/fonc.2024.1380917]

  • Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui JC, Chipa-Ccasani F, Greco A, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada-Terradellas J and Sarquella-Brugada G.

    Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

    GENES . 15(5): .

    [doi:10.3390/genes15050638]

  • Ceballos, F, Serrano-Lorenzo, P, Bermejo-Guerrero, L, Blázquez, A, Quesada-Espinosa, JF, Amigo, J, Minguez, P, Ayuso, C, García-Arumí, E, Muelas, N, Jaijo, T, Nascimento-Osorio A, Galán-Rodriguez, B, Paradas, C, Arenas, J, Carracedo, A, Martí, R, Martín, MA and Domínguez-González, C.

    Clinical and Genetic Analysis of Patients With TK2 Deficiency

    NEUROLOGY-GENETICS . 10(2): . Nº de citas: 5

    [doi:10.1212/NXG.0000000000200138]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de citas: 8

    [doi:10.1038/s41431-023-01526-2]

  • Martinez-Pizarro, Ainhoa, Pico, Sara, López-Marquez A, Rodriguez-Lopez, Claudia, Montalvo, Elena, Alvarez, Mar, Castro, Margarita, Ramon-Maiques, Santiago, Perez, Belen, Lucas, Jose J., Richard, Eva and Desviat, Lourdes R..

    PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice

    HUMAN MOLECULAR GENETICS . 33(12): 1074-1089. Nº de citas: 1

    [doi:10.1093/hmg/ddae051]

  • Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL and Hoffman EP.

    Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

    Neurology . 102(5): . Nº de citas: 30

    [doi:10.1212/WNL.0000000000208112]

  • Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

    Journal of neuromuscular diseases . 11(3): 647-653. Nº de citas: 2

    [doi:10.3233/JND-230216]

  • Martinez-Marin RJ, Reyes-Leiva D, Nascimento-Osorio A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S and Díaz-Manera J.

    Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    NEUROMUSCULAR DISORDERS . 34: 1-8. Nº de citas: 1

    [doi:10.1016/j.nmd.2023.10.001]

  • Pitarch-Castellano, I, Hervás, D, Cattinari, MG, Albert, EI, Lobato, ML, Garzón, NCN, Rojas, J, Puig-Ram C and Madruga-Garrido, M.

    Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry

    CHILDREN-BASEL . 10(12): . Nº de citas: 3

    [doi:10.3390/children10121880]