Publicaciones en colaboración con investigadores/as de University of Pavia (3)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

  2. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum

    Movement Disorders, Vol. 39, Núm. 1, pp. 209-214

2020

  1. Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1