Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (5)

2020

  1. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 8, pp. 1436-1442

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

  2. A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample

    Cephalalgia, Vol. 32, Núm. 14, pp. 1076-1080

  3. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 159 B, Núm. 1, pp. 94-103

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262