Publicacions en col·laboració amb investigadors/ores de Hospital Clinic Barcelona (24)

2025

  1. Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: Insights from 13 new cases

    Brain Communications, Vol. 7, Núm. 5

2024

  1. Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    Antioxidants, Vol. 13, Núm. 8

  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

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. Characterizing the molecular architecture of cortical regions associated with high educational attainment in older individuals

    Journal of Neuroscience, Vol. 39, Núm. 23, pp. 4566-4575

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

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

  4. Structural brain network of gifted children has a more integrated and versatile topology

    Brain Structure and Function, Vol. 224, Núm. 7, pp. 2373-2383

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

  2. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

    Journal of Genetics and Genomics

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

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

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

    Mitochondrion, Vol. 30, pp. 51-58

  4. 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. 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