Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (6)

2015

  1. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2012

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

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

2011

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

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

2010

  1. Association study of the serotoninergic system in migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 1, pp. 177-184

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503