Germán Morís de la Tassa-rekin lankidetzan egindako argitalpenak (10)

2022

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

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

2019

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

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

  2. 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

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

    Scientific Reports, Vol. 9, Núm. 1

  4. 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