Publikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (4)

2024

  1. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease

    Annals of Neurology

2018

  1. Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy

    EMBO Molecular Medicine, Vol. 10, Núm. 8

2012

  1. Assessment of thymidine phosphorylase function: Measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity

    Methods in Molecular Biology, Vol. 837, pp. 121-133

2008

  1. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

    Human Molecular Genetics, Vol. 17, Núm. 16, pp. 2433-2440