Associated Papers
Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.
Zhang N et al.
Genes, 2026
Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model.
Tongu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.
Sergi CM
Genes, 2025
Tafazzin regulates neutrophil maturation and inflammatory response.
Zakrzewski P et al.
Embo Reports, 2025
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Muir CR et al.
Prenatal Diagnosis, 2025
Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.
Ortmann L et al.
European Heart Journal. Case Reports, 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures.
Liu O et al.
Molecular Genetics and Metabolism, 2023
Genetic Basis of Left Ventricular Noncompaction.
Rojanasopondist P et al.
Circulation. Genomic and Precision Medicine, 2022
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Role of Tafazzin in Mitochondrial Function, Development and Disease.
Chin MT et al.
Journal of Developmental Biology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
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
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.
Wang C et al.
Journal of the American Heart Association, 2017
The pathogenicity of genetic variants previously associated with left ventricular non-compaction.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 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
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
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Chang B et al.
Molecular Genetics and Metabolism, 2011
Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.
Xia S et al.
Internal Medicine (tokyo, Japan), 2008
Barth syndrome presenting with acute metabolic decompensation in the neonatal period.
Donati MA et al.
Journal of Inherited Metabolic Disease, 2006
A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function.
Khuchua Z et al.
Circulation Research, 2006
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.
Finsterer J et al.
International Journal of Cardiology, 2006
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Bissler JJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
Cantlay AM et al.
The Journal of Pediatrics, 1999