Publicacións en colaboración con investigadores/as de Universidade dos Açores (3)

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