MARÍA TERESA GARCÍA SILVA-rekin lankidetzan egindako argitalpenak (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