Publikationen in Zusammenarbeit mit Forschern von Hospital Clinic Barcelona (22)

2024

  1. Chromosomal breaks: another differential gap between early-onset and late-onset colorectal cancers

    British Journal of Surgery, Vol. 111, Núm. 3

  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

2022

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

    Frontiers in Physiology, Vol. 13

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

    Antioxidants, Vol. 11, Núm. 4

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

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

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

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

2016

  1. 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

  2. Free-thiamine is a potential biomarker of Thiamine transporter-2 deficiency: A treatable cause of Leigh syndrome

    Brain, Vol. 139, Núm. 1, pp. 31-38

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

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

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

    Mitochondrion, Vol. 30, pp. 51-58

  5. 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

2014

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

    BMC Pediatrics, Vol. 14, Núm. 1

  2. 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

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