MARÍA TERESA
GARCÍA SILVA
Investigadora hasta 2019
Universitat de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Universitat de Barcelona (7)
2022
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
2019
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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
Human Mutation, Vol. 40, Núm. 10, pp. 1700-1712
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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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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2011
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Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation
Headache, Vol. 51, Núm. 10, pp. 1542-1546
2008
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Mitochondrial diseases associated with cerebral folate deficiency
Neurology, Vol. 70, Núm. 16, pp. 1360-1362