Publications (9) JAVIER POYATOS GARCIA publications

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2025

  1. Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies

    Journal of Neurology, Vol. 272, Núm. 1

2024

  1. AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action

    Science advances, Vol. 10, Núm. 41, pp. eadn6525

  2. Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model

    Skeletal muscle, Vol. 14, Núm. 1, pp. 21

2023

  1. CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2

    Molecular Therapy - Nucleic Acids, Vol. 31, pp. 324-338

2022

  1. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

    Annals of Neurology, Vol. 92, Núm. 5, pp. 793-806

2021

  1. A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1356-1365

  2. Duchenne muscular dystrophy cell culture models created by CRISPR/Cas9 gene editing and their application in drug screening

    Scientific Reports, Vol. 11, Núm. 1

  3. Musashi-2 contributes to myotonic dystrophy muscle dysfunction by promoting excessive autophagy through miR-7 biogenesis repression

    Molecular Therapy - Nucleic Acids, Vol. 25, pp. 652-667

  4. Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

    Molecular Therapy - Nucleic Acids, Vol. 26, pp. 174-191