Publicaciones en colaboración con investigadores/as de Hospital Infanta Sofia (2)

2023

  1. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

    Brain : a journal of neurology, Vol. 146, Núm. 12, pp. 5235-5248

2022

  1. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations

    Journal of Clinical Medicine, Vol. 11, Núm. 1