Publications in collaboration with researchers from Hospital Universitario 12 de Octubre (5)

2019

  1. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

  2. Mutación puntual de novo en el gen KCND3 en un paciente con ataxia crónica de inicio precoz

    Revista de Neurologia

2017

  1. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753