Publicaciones en las que colabora con Samuel Ignacio Pascual Pascual (5)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

2020

  1. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

    Neurologia, Vol. 35, Núm. 3, pp. 185-206

2013

  1. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

    Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250

2010

  1. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10