Publicacións en colaboración con investigadores/as de University of Tübingen (2)

2019

  1. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773

2017

  1. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

    Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539