Publications by the researcher in collaboration with ROBERTO FERNÁNDEZ TORRON (3)

2020

  1. Clinical, morphological and genetic characterization of Brody disease: An international study of 40 patients

    Brain, Vol. 143, Núm. 2, pp. 452-466

  2. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Genetics in Medicine, Vol. 22, Núm. 9, pp. 1478-1488

2015

  1. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

    Neuromuscular Disorders, Vol. 25, Núm. 7, pp. 548-553