Publicaciones en las que colabora con JOAQUÍN ARENAS BARBERO (20)

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

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

    Mitochondrion, Vol. 30, pp. 51-58

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

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

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

2009

  1. Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency

    Mitochondrion, Vol. 9, Núm. 5, pp. 299-305

2008

  1. Mitochondrial diseases associated with cerebral folate deficiency

    Neurology, Vol. 70, Núm. 16, pp. 1360-1362

2005

  1. Renal pathology in children with mitochondrial diseases

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

1999

  1. Mitochondrial diseases in children: Neuroradiological and clinical features in 17 patients

    Neuroradiology, Vol. 41, Núm. 12, pp. 920-928

  2. Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation

    Journal of Inherited Metabolic Disease, Vol. 22, Núm. 8, pp. 939-940

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

    Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573

1997

  1. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

    Pediatric Neurology, Vol. 17, Núm. 2, pp. 165-170

1995

  1. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome

    Pediatric Neurology, Vol. 13, Núm. 1, pp. 69-72

1994

  1. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

    The Journal of Pediatrics