Publications en collaboration avec des chercheurs de Radboud University Nijmegen Medical Centre (3)

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

2018

  1. Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2017

  1. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

    Annals of Neurology, Vol. 82, Núm. 6, pp. 1004-1015