Publikationen in Zusammenarbeit mit Forschern von 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