A. Font

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

A. Ribes, P. Briones, W. Sperl, 2009, Journal of Inherited Metabolic Disease.

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

J. A. Arranz, F. Tort, A. Ribes, 2013, Journal of Inherited Metabolic Disease.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Marta A. Uzarska, J. A. Arranz, F. Tort, 2011, American journal of human genetics.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

F. Tort, A. Ribes, M. Pineda, 2010, Journal of Inherited Metabolic Disease.

Screening for nuclear genetic defects in the ATP synthase‐associated genes TMEM70, ATP12 and ATP5E in patients with 3‐methylglutaconic aciduria

F. Tort, A. Ribes, W. Lissens, 2011, Clinical genetics.

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.

F. Tort, A. Ribes, P. Briones, 2011, JIMD reports.