Publicacions
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Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.
New variants expand the neurological phenotype of COQ7 deficiency
JOURNAL OF INHERITED METABOLIC DISEASE . : .
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Pons-Tomas, Gemma, Hernandez-Garcia, Maria, Mele-Casas, Maria, Fernández de Sevilla-Estrach M, Launes-Montana C, Girona M, Rios-Barnés M, Bassat Q, Ajanovic, Sara, Cubells M, Claverol J, Penela-Sanchez, Daniel, Jou-Munoz C, Manuel Monsonis Cabedo, Esteva-Afonso C, Fassanella, Assumpta, Cuadras-Palleja D, Munoz-Almagro C, Jordán-García I, Fortuny-Guasch C, García-García JJ and Fumadó V.
Clinical Characterization, Transmissibility, and Seroconversion of SARS-CoV-2 Infection in Children (before the Start of Vaccination) in the Barcelona Metropolitan Region (Spain)
Journal of Pediatric Infectious Diseases . : .
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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.
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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. Nº de cites: 1
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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 . : .
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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.
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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 . : .
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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): .
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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.
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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): .