Publications in collaboration with researchers from French Institute of Health and Medical Research (3)

2016

  1. The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency

    Human Molecular Genetics, Vol. 25, Núm. 19, pp. 4256-4265

2011

  1. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

    Journal of Clinical Investigation, Vol. 121, Núm. 5, pp. 2013-2024

2005

  1. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

    Neurology, Vol. 65, Núm. 4, pp. 606-608