Publications in collaboration with researchers from University of Pavia (8)

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. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

  2. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

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