Publicaciones (180) Publicaciones de JUAN J. VILCHEZ PADILLA

2023

  1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

    Journal of Neurology, Vol. 270, Núm. 12, pp. 5849-5865

  2. Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis

    Transplant Infectious Disease

  3. Human skeletal myopathy myosin mutations disrupt myosin head sequestration

    JCI Insight, Vol. 8, Núm. 21

2022

  1. A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

    Neuropathology and Applied Neurobiology, Vol. 48, Núm. 5

  2. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

    Brain, Vol. 145, Núm. 2, pp. 596-606

  3. Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain

    Neurology: Genetics, Vol. 8, Núm. 6

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

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

  5. Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial

    JAMA Neurology, Vol. 79, Núm. 10, pp. 1005-1014

  6. European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders

    European Journal of Neurology, Vol. 29, Núm. 12, pp. 3486-3507

  7. Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene

    Clinical Genetics, Vol. 101, Núm. 2, pp. 233-241

  8. NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

    Acta Neuropathologica Communications, Vol. 10, Núm. 1

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. Abstracts from the International Congress on Neuromuscular Diseases, September 11-14, 2020: A Virtual Event

    Journal of neuromuscular diseases

  3. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

    European Journal of Neurology, Vol. 28, Núm. 9, pp. 3001-3011

  4. Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations

    Journal of the Neurological Sciences, Vol. 429

  5. Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

    European Journal of Neurology, Vol. 28, Núm. 4, pp. 1334-1343

  6. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

    Journal of Comparative Effectiveness Research, Vol. 10, Núm. 18, pp. 1337-1347

  7. 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

  8. Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

    Neuropathology and Applied Neurobiology, Vol. 47, Núm. 2, pp. 352-356

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

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