Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (4)

2018

  1. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

    Journal of Medical Genetics, Vol. 55, Núm. 12, pp. 814-823

2017

  1. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

2007

  1. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease")

    Journal of Molecular Neuroscience, Vol. 33, Núm. 2, pp. 151-154

2004

  1. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)

    Neurology, Vol. 63, Núm. 11, pp. 2165-2167