Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

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

  2. Prenatal and progressive coenzyme Q10 administration to mitigate muscle dysfunction in mitochondrial disease

    Journal of Cachexia, Sarcopenia and Muscle

2021

  1. Model cells and organisms in mitochondrial diseases

    Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 231-271

2016

  1. RNA-binding proteins regulate cell respiration and coenzyme Q biosynthesis by post-transcriptional regulation of COQ7

    RNA Biology, Vol. 13, Núm. 7, pp. 622-634

2013

  1. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: A modelling study for human coenzyme Q10 deficiencies

    BMJ Open, Vol. 3, Núm. 3