Publicacións en colaboración con investigadores/as de Columbia University Medical Center (6)

2016

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

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

2012

  1. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191

2011

  1. Coenzyme Q deficiency in muscle

    Current Opinion in Neurology, Vol. 24, Núm. 5, pp. 449-456

2006

  1. Genetics of primary CoQ10 deficiency

    Current Genomics, Vol. 7, Núm. 6, pp. 343-349