MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Miguel Angel
Martín Casanueva
Publicaciones en las que colabora con Miguel Angel Martín Casanueva (19)
2018
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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
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Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene
Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53
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Understanding mitochondrial diseases
Clinical Nutrition
2016
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Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry
Clinical Nutrition, Vol. 35, Núm. 6, pp. 1484-1489
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First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
Neurogenetics, Vol. 17, Núm. 1, pp. 51-56
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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
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Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
Mitochondrion, Vol. 30, pp. 51-58
2014
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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
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A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
BMC Nephrology, Vol. 14, Núm. 1
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Cardiac dysfunction in mitochondrial disease: Clinical and molecular features
Circulation Journal, Vol. 77, Núm. 11, pp. 2799-2806
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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
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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies
Mitochondrion, Vol. 12, Núm. 2, pp. 357-362
2010
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Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features
Mitochondrion, Vol. 10, Núm. 5, pp. 429-432
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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
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Pathogenic mutations in the 5′ untranslated region of BCS1L mRNA in mitochondrial complex III deficiency
Mitochondrion, Vol. 9, Núm. 5, pp. 299-305
2005
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Renal pathology in children with mitochondrial diseases
Pediatric Nephrology, Vol. 20, Núm. 9, pp. 1299-1305
1999
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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
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Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573