Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Olorón, PM, Alegría, I, César-Díaz S, del Olmo, B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A, Campuzano, O and Sarquella-Brugada G.

    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(11): .

    [doi:10.3390/ijms25115836]

  • 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]

  • Nematollahi, Shahrzad, Dieterich, Klaus, Filges, Isabel, De Vries, Johanna I. P., Van Bosse, Harold, Natera-de Benito D, Hall, Judith G., Sawatzky, Bonita, Bedard, Tanya, Sanchez, Victoria Castillo, Navalon-Martinez, Carolina, Pan, Tony, Hilton, Coleman and Dahan-Oliel, Noemi.

    Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre international

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : .

    [doi:10.1111/dmcn.15915]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacional

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : .

    [doi:10.1111/dmcn.15914]

  • 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): .

    [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: 3

    [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.

    [doi:10.1093/hmg/ddae051]

  • Nematollahi S, Dieterich K, Filges I, De Vries JIP, Van Bosse H, Natera-de Benito D, Hall JG, Sawatzky B, Bedard T, Sanchez VC, Navalon-Martinez C, Pan T, Hilton C and Dahan-Oliel N.

    Common data elements for arthrogryposis multiplex congenita: An international framework

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : . Nº de citas: 1

    [doi:10.1111/dmcn.15898]

  • 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: 8

    [doi:10.1212/WNL.0000000000208112]