Associated Papers
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.
Sergi CM
Genes, 2025
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome.
Dinca AA et al.
Journal of Molecular and Cellular Cardiology, 2018
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.
Yoo TY et al.
Journal of Cardiovascular Ultrasound, 2016
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.
Debnath S et al.
Interdisciplinary Sciences, Computational Life Sciences, 2015
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
Fan Y et al.
Jimd Reports, 2013
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
Sakamoto O et al.
Journal of Human Genetics, 2002
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