Publicacións en colaboración con investigadores/as de Hospital Ramón y Cajal (6)

2015

  1. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

    Cerebellum

2014

  1. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

    Clinical Genetics, Vol. 85, Núm. 2, pp. 154-158

2012

  1. Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation, Vol. 33, Núm. 9, pp. 1315-1323

2011

  1. Cerebrotendinous xanthomatosis in Spain: Clinical, prognostic, and genetic survey

    European Journal of Neurology, Vol. 18, Núm. 10, pp. 1203-1211

  2. Neurophysiological study in cerebrotendinous xanthomatosis

    Muscle and Nerve, Vol. 43, Núm. 4, pp. 531-536

  3. Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa

    Neurologia, Vol. 26, Núm. 7, pp. 397-404