Publications dans lesquelles il/elle collabore avec Miguel Angel Martín Casanueva (16)

2019

  1. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

2018

  1. Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis

    Scientific Reports, Vol. 8, Núm. 1

  2. Protocolo de diagnóstico y tratamiento de las enfermedades mitocondriales

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 181-204

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

2010

  1. Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    Mitochondrion, Vol. 10, Núm. 5, pp. 429-432

  2. Síndromes de Pearson y de Kearns-Sayre: Dos enfermedades mitocondriales multisistémicas, debidas a deleciones en el ADN mitocondrial

    Acta Pediatrica Espanola, Vol. 68, Núm. 9, pp. 451-459

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