Publicacións en colaboración con investigadores/as de 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