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  • Mercuri E, Deconinck N, Mazzone ES, Nascimento-Osorio A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW and SUNFISH Study Group.

    Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

    LANCET NEUROLOGY . 21(1): 42-52.

    [doi:10.1016/S1474-4422(21)00367-7]

  • 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): .

    [doi:10.3390/genes12101590]

  • 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]

  • 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]

  • 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.

  • 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.

  • 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]