Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (13)

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

  2. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

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

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

2020

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

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

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

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

  3. Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study

    European Journal of Neurology, Vol. 27, Núm. 8, pp. 1364-1373

2019

  1. PDGF-BB serum levels are decreased in adult onset Pompe patients

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trials

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 10, pp. 1071-1081

  2. Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 89, Núm. 11, pp. 1224-1226