Publicaciones en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (194)

2022

  1. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

    Genes, Vol. 13, Núm. 10

  2. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (Ad-PEO)/PEO-plus due to TWNK mutations

    Journal of Clinical Medicine, Vol. 11, Núm. 1

  3. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

    Neuromuscular Disorders, Vol. 32, Núm. 9, pp. 728-735

2018

  1. Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

    Medicine and Science in Sports and Exercise, Vol. 50, Núm. 6, pp. 1142-1151

  2. Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

    Journal of Physiology, Vol. 596, Núm. 6, pp. 1035-1061

2017

  1. Muscle fiber type proportion and size is not altered in mcardle disease

    Muscle and Nerve, Vol. 55, Núm. 6, pp. 916-918

  2. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

  3. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry

    Clinical Nutrition, Vol. 35, Núm. 6, pp. 1484-1489

  3. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

    Neurogenetics, Vol. 17, Núm. 1, pp. 51-56

  4. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Neurogenetics, Vol. 17, Núm. 4, pp. 259-263

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

    Mitochondrion, Vol. 30, pp. 51-58

2013

  1. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

    BMC Nephrology, Vol. 14, Núm. 1

  2. Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

    Human Mutation, Vol. 34, Núm. 12, pp. 1623-1627

2012

  1. Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA Leu(CUN) gene

    Mitochondrion, Vol. 12, Núm. 2, pp. 288-293

  2. Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

    Mitochondrion, Vol. 12, Núm. 2, pp. 357-362

2010

  1. Depleción del ácido desoxirribonucleico mitocondrial y mutaciones de POLG en un paciente con neuropatía sensorial atáxica, disartria y oftalmoplejía

    Medicina Clinica, Vol. 135, Núm. 10, pp. 452-455

  2. Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease

    BMC Neurology, Vol. 10

2009

  1. C34T mutation of the AMPD1 gene in an elite white runner

    BMJ Case Reports