Publications in collaboration with researchers from Universidad de Zaragoza (4)

2020

  1. Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics, Vol. 10

2016

  1. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    European Journal of Human Genetics

2012

  1. Composition of normal and pathological cerebrospinal fluid in neuropathology

    Cerebrospinal Fluid: Functions, Composition and Disorders (Nova Science Publishers, Inc.), pp. 87-106

1997

  1. A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3- hydroxy-3-methylglutaric aciduria

    Journal of Lipid Research, Vol. 38, Núm. 11, pp. 2303-2313