Publicacions en col·laboració amb investigadors/es de University of Padua (6)

2016

  1. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

    European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372

2015

  1. Primary coenzyme Q 10 deficiency presenting as fatal neonatal multiorgan failure

    European Journal of Human Genetics, Vol. 23, Núm. 9, pp. 1254-1258

2012

  1. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

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

2009

  1. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

    Autophagy, Vol. 5, Núm. 1, pp. 19-32

2008

  1. Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    Clinical Biochemistry, Vol. 41, Núm. 9, pp. 697-700

2007

  1. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

    Human Molecular Genetics, Vol. 16, Núm. 9, pp. 1091-1097