Publications in collaboration with researchers from Hospital Vall d'Hebron (10)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease, Vol. 47, Núm. 5, pp. 1047-1068

2012

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

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

  2. Mortality after surgery in Europe: A 7 day cohort study

    The Lancet, Vol. 380, Núm. 9847, pp. 1059-1065

2006

  1. Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

    Journal of the Neurological Sciences, Vol. 246, Núm. 1-2, pp. 153-158