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Publicacions

  • Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B, Martín MA, Montoya J and Artuch-Iriberri R.

    The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call

    GENES . 12(10): 1590. Nº de cites: 8

    [doi:10.3390/genes12101590]

  • Xiol-Viñas C, Marina Heredia Torras, Pascual-Alonso A, De Oyarzabal-Sanz AL and Armstrong-Moron J.

    Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(19): 10375. Nº de cites: 2

    [doi:10.3390/ijms221910375]

  • Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J.

    MECP2 Related Disorders in Males

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): 9610. Nº de cites: 10

    [doi:10.3390/ijms22179610]

  • Trifunov S, Paredes-Fuentes AJ, Badosa-Gallego MC, Codina-Bergadà A, Montoya C, Ruiz-Pesini E, Jou-Munoz C, Garrabou G, Grau-Junyent JM, Yubero-Siles D, Montero-Sanchez R, Muchart-Lopez J, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Català-Temprano A, Garcia-Cazorla A, Jimenez-Mallebrera C and Artuch-Iriberri R.

    Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

    CLINICAL CHEMISTRY . 67(8): 1113-1121. Nº de cites: 6

    [doi:10.1093/clinchem/hvab091]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

    PARKINSONISM & RELATED DISORDERS . 91: 19-22. Nº de cites: 1

    [doi:10.1016/j.parkreldis.2021.08.010]