Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (11)

2022

  1. Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome

    Annals of Clinical and Translational Neurology, Vol. 9, Núm. 2, pp. 122-131

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

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

2019

  1. HTT gene intermediate alleles in neurodegeneration: evidence for association with Alzheimer's disease

    Neurobiology of Aging, Vol. 76, pp. 215.e9-215.e14

  2. Late-onset thymidine kinase 2 deficiency: A review of 18 cases

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  3. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 90, Núm. 5, pp. 576-585

  4. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  5. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

  6. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

    Molecular Genetics and Metabolism, Vol. 128, Núm. 1-2, pp. 129-136

2018

  1. Quantitative muscle MRI to follow up late onset Pompe patients: A prospective study

    Scientific Reports, Vol. 8, Núm. 1

2016

  1. Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function

    PLoS ONE, Vol. 11, Núm. 10

2012

  1. Trunk muscle involvement in late-onset Pompe disease: Study of thirty patients

    Neuromuscular Disorders, Vol. 22, Núm. SUPPL. 2