Publicacións en colaboración con investigadores/as de Universitat de Barcelona (3)

2024

  1. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

2017

  1. Generation, genome edition and characterization of iPSC lines from a patient with coenzyme Q10 deficiency harboring a heterozygous mutation in COQ4 gene

    Stem Cell Research, Vol. 24, pp. 144-147

  2. Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency

    Stem Cells, Vol. 35, Núm. 7, pp. 1687-1703