Publications en collaboration avec des chercheurs de Hospital Duran i Reynals (4)

2024

  1. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

    Aging Cell

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

    Movement Disorders

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

2019

  1. FAHN/SPG35: A narrow phenotypic spectrum across disease classifications

    Brain, Vol. 142, Núm. 6, pp. 1561-1572