Buscador de publicacions

Publicacions

  • Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento-Osorio A, Olivé M, Quan J, Sardina MD, Martí R and Paradas C.

    Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 407-407.

    [doi:10.1186/s13023-021-02030-w]

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

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

    GENES . 12(10): 1590.

    [doi:10.3390/genes12101590]

  • Mercuri, E, Muntoni, F, Buccella, F, Desguerre, I, Kirschner, J, Nascimento-Osorio A, Tulinius, M, Johnson, S, Werner, C, Kristensen, A, Jiang, J, Li, J, Trifillis, P, Santos, C and McDonald, C.

    Age at loss of ambulation in patients with DMD from the STRIDE Registry and the CINRG Natural history study: a matched cohort analysis

    NEUROMUSCULAR DISORDERS . 31: 92-92.

    [doi:10.1016/j.nmd.2021.07.167]

  • Exposito-Escudero, J, Camacho, A, Amado, A, Fernandez, J, Molina, A, Cantarin, V, Carrera, L, Natera-de Benito D, Ortez-Gonzalez CI and Nascimento-Osorio A.

    Current situation of medical care in female carriers of DMD

    NEUROMUSCULAR DISORDERS . 31: 81-81.

    [doi:10.1016/j.nmd.2021.07.132]

  • Carrera, L, Cantarero-Abad L, Nolasco, G, Pijuan, J, Natera-de Benito D, Estevez, B, Exposito, J, Colomer J, Ortez-Gonzalez CI, Palau F, Hoenicka J and Nascimento-Osorio A.

    Early onset hereditary neuropathies related to mitochondrial dynamics in pediatric patients

    NEUROMUSCULAR DISORDERS . 31: 114-114.

    [doi:10.1016/j.nmd.2021.07.239]

  • Vidal S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M, Armstrong-Moron J and Rett Working Group.

    Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 11(1): 18146-18146.

    [doi:10.1038/s41598-021-97262-y]

  • Muntoni, F, Buccella, F, Desguerre, I, Kirschner, J, Mercuri, E, Nascimento-Osorio A, Tulinius, M, Johnson, S, Werner, C, Kristensen, A, Jiang, J, Li, J, Trifillis, P and Santos, C.

    Updated Demographics and Safety Data from Patients with Nonsense Mutation Duchenne Muscular Dystrophy Receiving Ataluren in the STRIDE Registry

    ANNALS OF NEUROLOGY . 90: 158-158.

  • Tulinius, M, Buccella, F, Desguerre, I, Kirschner, J, Mercuri, E, Muntoni, F, Nascimento-Osorio A, Johnson, S, Werner, C, Kristensen, A, Jiang, J, Li, J, Trifillis, P, Santos, C and McDonald, C.

    Pulmonary Function in Patients with Duchenne Muscular Dystrophy from the STRIDE Registry and CINRG Natural History Study: A Matched Cohort Analysis

    ANNALS OF NEUROLOGY . 90: 154-154.

  • Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento-Osorio A and Neuromuscular Working Group of Spanish Pediatric Neurology Society.

    COVID-19 in children with neuromuscular disorders.

    JOURNAL OF NEUROLOGY . 268(9): 3081-3085.

    [doi:10.1007/s00415-020-10339-y]

  • 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.

    [doi:10.1093/clinchem/hvab091]