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Publications

  • Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.

    Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances

    WORLD NEUROSURGERY . 187: 124-132.

    [doi:10.1016/j.wnEu.2024.04.064]

  • Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.

    SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1.

    NATURE COMMUNICATIONS . 15(1): 5359-5359.

    [doi:10.1038/s41467-024-49746-4]

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . : .

    [doi:10.1055/s-0044-1787194]

  • 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, Jana Domínguez Carral, 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.

    [doi:10.1002/acn3.52058]

  • Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.

    A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

    THYROID . : .

    [doi:10.1089/thy.2023.0593]

  • 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]