Publicaciones (67) Publicaciones de ROBERTO FERNÁNDEZ TORRON

2024

  1. Correction to: 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, (2023), 270, 12, (5849-5865), 10.1007/s00415-023-11862-4)

    Journal of Neurology

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. Erratum: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(Brain (2020) 143:9 (2696–2708) DOI:10.1093/brain/awaa228)

    Brain

  3. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

2022

  1. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

    Muscle and Nerve, Vol. 65, Núm. 5, pp. 531-540

  2. Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

    Cells, Vol. 11, Núm. 19

  3. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

    Journal of Neurology, Vol. 269, Núm. 7, pp. 3550-3562

  4. Senescence plays a role in myotonic dystrophy type 1

    JCI insight, Vol. 7, Núm. 19

  5. Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy

    Journal of Cachexia, Sarcopenia and Muscle, Vol. 13, Núm. 3, pp. 1850-1863

2021

  1. A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey

    Neurology and Therapy, Vol. 10, Núm. 2, pp. 833-845

  2. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

    Neuromuscular Disorders, Vol. 31, Núm. 4, pp. 265-280

2020

  1. A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 21, Núm. 3-4, pp. 252-262

  2. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies

    Neurology, Vol. 94, Núm. 10, pp. e1094-e1102

  3. Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

    Neurology, Vol. 94, Núm. 11, pp. e1171-e1180

  4. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

  5. Clinical, morphological and genetic characterization of Brody disease: An international study of 40 patients

    Brain, Vol. 143, Núm. 2, pp. 452-466

  6. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

    European Journal of Neurology, Vol. 27, Núm. 12, pp. 2604-2615

  7. Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

    Frontiers in Neurology, Vol. 11

  8. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 1, pp. 126-131

  9. Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin

    Aging, Vol. 12, Núm. 7, pp. 6260-6275