Publications in collaboration with researchers from Universidad de Deusto (3)

2024

  1. Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

    Brain, Vol. 147, Núm. 8, pp. 2867-2883

  2. Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis

    Acta Neuropathologica, Vol. 148, Núm. 1

  3. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders