• A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice
• A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
• A monolysocardiolipin-cytochrome c peroxidase causes defects in Barth syndrome
• A novel panel of Drosophila TAFAZZIN mutants in distinct genetic backgrounds as a resource for therapeutic testing
• Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome
• Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes
• Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome
• Anconeus epitrochlearis muscle (epitrochlearisanconeus muscle; Musculus epitrochleoanconeus) with cubital tunnel syndrome - a rare but relevant clinical entity
• Anomalous peroxidase activity of cytochrome c is the primary pathogenic target in Barth syndrome
• Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
• Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice
• Birth of monozygotic dichorionic twins after a single blastocyst embryo transfer: a case report of genetic determination of zygosity
• Brainstem volume changes in myalgic encephalomyelitis/chronic fatigue syndrome and long COVID patients
• Cardiolipin clustering promotes mitochondrial membrane dynamics
• Cardiolipin deficiency leads to the destabilization of mitochondrial magnesium channel MRS2 in Barth syndrome
• Cardiolipin metabolism regulates expression of muscle transcription factor MyoD1 and muscle development
• Cardiolipin remodeling maintains the inner mitochondrial membrane in cells with saturated lipidomes
• Cardiolipin, and not monolysocardiolipin, preferentially binds to the interface of complexes III and IV
• Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
• Catheter Ablation for Channelopathies: When Is Less More?
• Chronic Intermittent Ethanol Exposure Dysregulates Nucleus Basalis Magnocellularis Afferents in the Basolateral Amygdala
• Clinical and biological heterogeneity of multisystem inflammatory syndrome in adults following SARS-CoV-2 infection: a case series
• Complement-Mediated Thrombotic Microangiopathy in Pregnancy: An Educational Case Report
• COVID-19 and spinal cord injury: clinical presentation, clinical course, and clinical outcomes of people hospitalised
• Current avenues of gene therapy in Pompe disease
• Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1)
• Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome
• Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses
• Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
• Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial
• Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome
• FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures
• Formation of multiple ion types during MALDI imaging mass spectrometry analysis of Mitragyna speciosa alkaloids in dosed rat brain tissue
• Functional diversity among cardiolipin binding sites on the mitochondrial ADP/ATP carrier
• Functional regeneration of dilated cardiomyopathy by transcatheter bilateral pulmonary artery banding: first-in-human case series
• Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome
• Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes
• How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function?
• Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data
• Inhibition of p38 signaling curtails the SARS-CoV-2 induced inflammatory response but retains the IFN-dependent antiviral defense of the lung epithelial barrier
• Invasive liver abscess syndrome with central nervous system involvement caused by hypermucoviscous Klebsiella pneumoniae: positive string test
• Isolation of Mitochondria for Mitochondrial Supercomplex Analysis from Small Tissue and Cell Culture Samples
• Long-term efficacy and safety of elamipretide in patients with Barth syndrome: 168-week open-label extension results of TAZPOWER
• Metabolic switch from fatty acid oxidation to glycolysis in knock-in mouse model of Barth syndrome
• Mitochondrial Calcium Regulation of Cardiac Metabolism in Health and Disease
• Mitochondrial phospholipid metabolism in health and disease
• Narrative review of pediatric heart failure in the age of precision medicine
• Neutrophil to High-density Lipoprotein ratio (NHR) as a potential predictor of disease severity and survival time in Creutzfeldt-Jakob disease
• New insights into <em>CC2D2A</em>-related Joubert syndrome
• New insights into CC2D2A-related Joubert syndrome
• Normothermic Machine Perfusion of Donor Livers for Transplantation in the United States - A Randomized Controlled Trial
• Normothermic Machine Perfusion of Donor Livers for Transplantation in the United States: A Randomized Controlled Trial
• One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle
• Perturbations in mitochondrial metabolism associated with defective cardiolipin biosynthesis: An <em>in-organello</em> real-time NMR study
• Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion
• Phenotypic Characterization of Male <em>Tafazzin</em>-Knockout Mice at 3, 6, and 12 Months of Age
• Prenatal case report of Barth syndrome caused by novel <em>TAFAZZIN</em> mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites
• Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites
• Prevalence of metabolic syndrome and components in rural, semi-urban and urban areas in the littoral region in Cameroon: impact of physical activity
• Propensity Score Matching Analysis Comparing the Efficacy and Steroid Tapering Benefit of Extracorporeal Photopheresis to Best Available Therapy in Third-Line or Beyond Treatment for Chronic GvHD
• Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
• Quality of life in Barth syndrome
• Recent Advances in Methods for Analyzing Lipids and Fatty Acids
• Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in <em>Pseudomonas aeruginosa</em> Treated Barth Syndrome B Lymphoblasts
• Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts
• Repeatability assessment for simultaneous measurement of arterial blood flow, venous oxygen saturation, and muscle perfusion following dynamic exercise
• Reply to Sopek Merkaš, I.; Lakušić, N. Comment on "von Känel et al. Early Trauma-Focused Counseling for the Prevention of Acute Coronary Syndrome-Induced Posttraumatic Stress: Social and Health Care Resources Matter. <em>J. Clin. Med.</em&gt
• Reply to Sopek Merkas, I.; Lakusic, N. Comment on "von Kanel et al. Early Trauma-Focused Counseling for the Prevention of Acute Coronary Syndrome-Induced Posttraumatic Stress: Social and Health Care Resources Matter. J. Clin. Med. 2022, 11, 1993&quot
• Sensory-Motor-Oral Stimulation Combined with Early Sucking During the Mandibular Distraction Osteogenesis Process in Children with Robin Sequence
• Sex-related differences in incidence, phenotype and risk of sudden cardiac death in inherited arrhythmia syndromes
• Single Cell Transcriptomic Analysis in a Mouse Model of Barth Syndrome Reveals Cell-Specific Alterations in Gene Expression and Intercellular Communication
• Single centre retrospective analysis of extracorporeal photopheresis (ECP) therapy in patients heavily pre-treated for chronic graft-versus-host disease (cGvHD) with steroid failure
• SS-31 treatment ameliorates cardiac mitochondrial morphology and defective mitophagy in a murine model of Barth syndrome
• Statement on ophthalmological examination for suspected shaken baby syndrome (SBS). : Statement of the German Society of Ophthalmology (DOG), the German Retina Society (RG), the German Professional Association of Ophthalmologists (BVA) in cooperation with
• Stellungnahme zur augenärztlichen Untersuchung bei Verdacht auf ein Schütteltrauma-Syndrom (STS)
• Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome
• Subcortical and default mode network connectivity is impaired in myalgic encephalomyelitis/chronic fatigue syndrome
• Symptomatic Hammertoes Treatment Comparison: Peg-in-Hole Arthrodesis Versus End-to-End Screw Fixation
• Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval
• Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy
• Temporal Effects of Safflower Oil Diet-Based Linoleic Acid Supplementation on Barth Syndrome Cardiomyopathy
• Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide
• Testicular damage without clinical manifestations in BALB/c mice experimentally infected with Zika virus
• The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL Family Impact Module
• The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module
• The multifaceted roles of the brain glycogen
• The subtherapeutic dose of valproic acid induces the activity of cardiolipin-dependent proteins
• Therapeutic Management with Airway Clearance in Children with Robin Sequence and Association with Swallowing Outcomes: A Systematic Review and Meta-analysis
• Topicality of the fundamental and determining importance of chronic critical ischemia of the extremities and its restorative treatment using crural/pedal bypasses in Germany and in Saxony-Anhalt
• Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
• Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study
• Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders
• Unraveling Complexities in Genetically Elusive Long QT Syndrome
• Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction and leads to increased glucose uptake in tafazzin-deficient cells
• Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells
• Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
• Vigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study
• Vigorous Exercise in Patients With Congenital Long-QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study
• Whole genome sequencing in paediatric channelopathy and cardiomyopathy
• Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?