Publicacións nas que colabora con JUAN J VILCHEZ PADILLA (11)

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

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. 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

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

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

2016

  1. Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma

    Journal of Neuroimmunology, Vol. 297, pp. 98-102

2015

  1. Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model

    DMM Disease Models and Mechanisms, Vol. 8, Núm. 7, pp. 679-690

2013

  1. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

    Human Molecular Genetics, Vol. 22, Núm. 4, pp. 704-716

2009

  1. Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.

    Human genetics, Vol. 126, Núm. 2, pp. 338

1998

  1. Dejerine'sottas neuropathy associated with de novo s79p mutation of the peripheral myelin protein 22 (PMP22) gene

    Human Mutation, Vol. 11, Núm. SUPPL 1