Results 71 to 80 of about 925 (85)

AAV Gene Therapy Prevents and Reverses Heart Failure in a Murine Knockout Model of Barth Syndrome

Circulation Research, 2020
Yang Xu, Zhiqiang Lin, Yifei Li
exaly  

A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population

Journal of Pediatrics, 2020
Michael Schlame, Colin Phoon, Mindong Ren   +2 more
exaly  

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Genetics in Medicine, 2021
Hilary Vernon, Brittany Hornby, Vernon Hilary J   +2 more
exaly  

Neurological & psychological aspects of Barth syndrome: Clinical manifestations and potential pathogenic mechanisms

Mitochondrion, 2021
Colin Phoon, Mindong Ren
exaly  

Loss of Mitochondrial Ca 2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

Circulation, 2021
Peter Rehling, Mathias Hohl, Markus Hoth   +2 more
exaly  

Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome

EMBO Molecular Medicine, 2023
Peter Rehling, Ivan Silbern, Henning Urlaub   +2 more
exaly  

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics, 1997
Annette Feigenbaum, Vicky L Funanage, Gerald F Cox   +2 more
exaly  

<p>Barth syndrome: mechanisms and management</p>

The Application of Clinical Genetics, 2019
Josef Finsterer
exaly  

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

American Journal of Medical Genetics Part A, 1993
Kei Lui
exaly  

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2016
Peter Rehling, Kaomei Guan, Britta Brugger   +2 more
exaly