María Jesús
Sobrido Gómez
Hospital Universitario La Fe
Valencia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Fe (4)
2018
-
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
-
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
-
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
-
Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)
Neurology, Vol. 63, Núm. 11, pp. 2165-2167