Xènia Ferrer-Cortés

Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Frederic Tort, Xènia Ferrer-Cortés, Marta Thió et al. · Human Molecular Genetics · 2013 · 84 citations · Full text

Genetics, 2-Ketoacid Dehydrogenase Complexes, Molecular Biology +19

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

Frederic Tort, María Teresa García‐Silva, Xènia Ferrer-Cortés et al. · Molecular Genetics and Metabolism · 2013 · 39 citations

New Mutation, Somatic Variant, 3-Methylglutaconic Aciduria +9

Protein expression profiles in patients carrying <i>NFU1</i> mutations. Contribution to the pathophysiology of the disease

Xènia Ferrer-Cortés, Aida Font, Núria Bujan et al. · Journal of Inherited Metabolic Disease · 2012 · 33 citations

Mutations in <i>TIMM50</i> cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Frederic Tort, Olatz Ugarteburu, Laura Texidó et al. · Human Mutation · 2019 · 27 citations

Genome Instability, Timm50 Deficiency, Timm50 Protein +13

Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination Codons

Leslie Matalonga, Ángela Arias, Frederic Tort et al. · Neurotherapeutics · 2015 · 22 citations · Full text

Lysosomal Diseases, Mendelian Disorder, Genetic Disorder +7