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

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

2023

  1. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: New splicing events

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 615-619

2020

  1. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2017

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

    Scientific Reports, Vol. 7, Núm. 1

  2. Molecular characterization of congenital myasthenic syndromes in Spain

    Neuromuscular Disorders, Vol. 27, Núm. 12, pp. 1087-1098