Publications (188) Publications de JUAN J VILCHEZ PADILLA

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

  3. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial

    Neurology, Vol. 102, Núm. 5

  4. Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease

    Neurology, Vol. 102, Núm. 7

  5. ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease

    European Journal of Neurology

  6. Insights into phenotypic variability caused by GARS1 pathogenic variants

    European Journal of Neurology, Vol. 31, Núm. 10

  7. Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

    Journal of Medical Genetics

  8. Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle

    Journal of Physiology, Vol. 602, Núm. 20, pp. 5229-5245

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