Publicacions en col·laboració amb investigadors/es 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

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

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

2008

  1. Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency

    FASEB Journal, Vol. 22, Núm. 6, pp. 1874-1885

2006

  1. Genetics of primary CoQ10 deficiency

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