Publicacións en colaboración con investigadores/as de Hospital Universitario Virgen del Rocío (3)

2023

  1. Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

    Neuromuscular Disorders, Vol. 33, Núm. 7, pp. 557-561

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1