Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (20)

2022

  1. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

    Antioxidants, Vol. 11, Núm. 4

  2. Calorie Restriction Rescues Mitochondrial Dysfunction in Adck2-Deficient Skeletal Muscle

    Frontiers in Physiology, Vol. 13

2021

  1. Cohort profile: The Spanish Early-onset Colorectal Cancer (SECOC) cohort: A multicentre cohort study on the molecular basis of colorectal cancer among young individuals in Spain

    BMJ Open, Vol. 11, Núm. 12

2020

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

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

2019

  1. Muscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease

    Journal of Clinical Medicine, Vol. 8, Núm. 1

  2. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2018

  1. Cardiac and placental mitochondrial characterization in a rabbit model of intrauterine growth restriction

    Biochimica et Biophysica Acta - General Subjects, Vol. 1862, Núm. 5, pp. 1157-1167

2016

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q 10 content

    European Journal of Human Genetics, Vol. 24, Núm. 3, pp. 367-372

  4. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2014

  1. Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    Journal of Inherited Metabolic Disease, Vol. 37, Núm. 1, pp. 53-62

  2. Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC Pediatrics, Vol. 14, Núm. 1

2013

  1. Adult form of Niemann-Pick type C with the variant biochemical phenotype on treatment with Miglustat

    Parkinsonism and Related Disorders

  2. Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion, Vol. 13, Núm. 4, pp. 337-341

2012

  1. Guidelines for the use and interpretation of assays for monitoring autophagy

    Autophagy, Vol. 8, Núm. 4, pp. 445-544

  2. Mortality after surgery in Europe: A 7 day cohort study

    The Lancet, Vol. 380, Núm. 9847, pp. 1059-1065

2010

  1. Coenzyme Q10-responsive ataxia: 2-Year-treatment follow-up

    Movement Disorders, Vol. 25, Núm. 9, pp. 1262-1268

2009

  1. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    Clinical Biochemistry, Vol. 42, Núm. 7-8, pp. 742-745

2002

  1. PGE1 protection against apoptosis induced by D-galactosamine is not related to the modulation of intracellular free radical production in primary culture of rat hepatocytes

    Free Radical Research, Vol. 36, Núm. 3, pp. 345-355