Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (62)

2024

  1. Cognitive Reserve and Frontotemporal Disorders: Exploring the Relationship Between Education, Physical Activity, and Cognitive Dysfunction in Older Adults

    Perceptual and Motor Skills

  2. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

  3. The Evolution of Physical Performance throughout an Entire Season in Female Football Players

    Sports, Vol. 12, Núm. 2

2023

  1. Coenzyme Q10 Levels Associated With Cognitive Functioning and Executive Function in Older Adults

    The journals of gerontology. Series A, Biological sciences and medical sciences, Vol. 78, Núm. 1, pp. 1-8

  2. Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis

    eLife, Vol. 12

2022

  1. Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway

    FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561

  2. Levels of Plasma Coenzyme Q10 Are Associated with Physical Capacity and Cardiovascular Risk in the Elderly

    Antioxidants, Vol. 11, Núm. 2

2021

  1. Model cells and organisms in mitochondrial diseases

    Mitochondrial Diseases: Theory, Diagnosis and Therapy (Springer International Publishing), pp. 231-271

2020

  1. Alu retrotransposons modulate Nanog expression through dynamic changes in regional chromatin conformation via aryl hydrocarbon receptor

    Epigenetics and Chromatin, Vol. 13, Núm. 1

  2. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

    Genome Biology, Vol. 21, Núm. 1

  3. Clinical presentation and proteomic signature of patients with TANGO2 mutations

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 2, pp. 297-308

  4. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

  5. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

  6. Na+ controls hypoxic signalling by the mitochondrial respiratory chain

    Nature, Vol. 586, Núm. 7828, pp. 287-291

  7. Precision Medicine in Rare Diseases

    DISEASES, Vol. 8, Núm. 4

  8. The Current Coenzyme Q Science and Knowledge

    Coenzyme Q in Aging (Springer International Publishing), pp. 3-9

2019

  1. Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation

    Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565

  2. Plasma coenzyme Q10 status is impaired in selected genetic conditions

    Scientific Reports, Vol. 9, Núm. 1

  3. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498