Publicaciones en colaboración con investigadores/as de University of Helsinki (6)

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

2022

  1. 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

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

  2. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2014

  1. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

    Human Mutation, Vol. 35, Núm. 7, pp. 868-879

2010

  1. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

    Neurology, Vol. 75, Núm. 8, pp. 732-741