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Publicaciones

  • 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 citas: 1

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

  • 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.

    [doi:10.1002/acn3.52058]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    PEDIATRIC NEUROLOGY . 155: 8-17.

    [doi:10.1016/j.pediatrneurol.2024.03.008]

  • 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]

  • 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]

  • Ojo OO, Bandres-Ciga S, Makarious MB, Crea PW, Hernandez DG, Houlden H, Rizig M, Singleton AB, Noyce AJ, Nalls MA, Blauwendraat C and Okubadejo NU.

    GBA1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians.

    MOVEMENT DISORDERS . 39(4): 728-733. Nº de citas: 2

    [doi:10.1002/mds.29753]

  • Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.

    Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

    HUMAN GENETICS . 143(3): 279-291.

    [doi:10.1007/s00439-024-02657-2]

  • Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.

    Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

    CLINICAL GENETICS . 105(3): 340-342.

    [doi:10.1111/cge.14454]

  • 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: 1

    [doi:10.3233/JND-230216]

  • Repossi R, Martín-Ramírez R, Gómez-Bernal F, Medina L, Fariña-Jerónimo H, González-Fernández R, Martín-Vasallo P and Plata-Bello J.

    Evaluation of Zonulin Expression and Its Potential Clinical Significance in Glioblastoma

    Cancers . 16(2): . Nº de citas: 1

    [doi:10.3390/cancers16020356]