Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (2)

2022

  1. Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)

    Neurology Perspectives, Vol. 2, Núm. 1, pp. 53-55

2013

  1. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Neurogenetics, Vol. 14, Núm. 1, pp. 11-22