Publications by the researcher in collaboration with JOAQUÍN ARENAS BARBERO (12)

2017

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

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

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

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

2016

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

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

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

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

  3. 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

2014

  1. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Orphanet journal of rare diseases, Vol. 9, pp. 217

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

2009

  1. Mitochondrial encephalomyopathies in children. Part I: Conventional MR imaging findings

    Current Medical Imaging Reviews, Vol. 5, Núm. 2, pp. 85-99

  2. Mitochondrial encephalomyopathies in children. Part II: Advanced MR tools and the importance for its early recognition in the acute clinical setting

    Current Medical Imaging Reviews, Vol. 5, Núm. 2, pp. 100-109

2005

  1. Renal pathology in children with mitochondrial diseases

    Pediatric Nephrology, Vol. 20, Núm. 9, pp. 1299-1305