MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Instituto de Salud Carlos III
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (8)
2021
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
2019
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2017
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia
Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2012
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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
2011
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Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients
Mitochondrion, Vol. 11, Núm. 6, pp. 867-870
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
2008
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Mitochondrial diseases associated with cerebral folate deficiency
Neurology, Vol. 70, Núm. 16, pp. 1360-1362