Disease: Cardioskeletal myopathy-neutropenia
- A Nationwide Survey on Danon Disease in Japan
- A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates
- A peculiar polysaccharide accumulation in muscle in a case of cardioskeletal myopathy
- AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome
- Assembly defects of desmin disease mutants carrying deletions in the alpha-helical rod domain are rescued by wild type protein
- Barth syndrome (X linked cardioskeletal myopathy and neutropenia)
- Barth syndrome is associated with a cognitive phenotype
- Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28
- Basophilic degeneration of skeletal muscle. Apropos of a case with cardioskeletal myopathy
- Beneficial effects of SS-31 peptide on cardiac mitochondrial dysfunction in tafazzin knockdown mice
- Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome
- Cardiac and clinical phenotype in Barth syndrome
- Cardiac Transplantation in Danon Disease
- Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
- Cardiolipin deficiency leads to the destabilization of mitochondrial magnesium channel MRS2 in Barth syndrome
- Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome
- Cardiomyopathy of unknown etiology: Barth syndrome unrecognized
- Cardioskeletal mitochondrial myopathy associated with chronic magnesium deficiency
- Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency
- Danon disease: an unusual presentation of autism
- Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
- Determination of Peak Oxygen Uptake in Patients with Acute Myocardial Infarction: The Role of Arterial Stiffness in Cardio-Vascular-Skeletal Muscle Coupling
- Disease model: LAMP-2 enlightens Danon disease
- Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
- Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels
- Effects of some calcium modulators on monensin toxicity
- Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish
- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study
- Evidence for dedifferentiation and metaplasia in amphibian limb regeneration from inheritance of DNA methylation
- Favorable outcomes after heart transplantation in Barth syndrome
- Genetic cardiac dysrhythmias and the sequelae of heart surgery in children
- Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome
- Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
- Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease
- Intermediate filament-related myopathies
- International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review
- Juvenile polysaccharidosis with cardioskeletal myopathy
- Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
- Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28
- Missense mutations in desmin associated with familial cardiac and skeletal myopathy
- Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome
- Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants
- Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
- New clinical and molecular insights on Barth syndrome
- Non-compaction cardiomyopathy in an adult with hereditary spherocytosis
- Nonhepatic Alagille Syndrome Associated With Predominant Cardioskeletal Anomalies: A Rare Case
- Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy
- Nutrition in Cardioskeletal Health
- One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle
- Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies
- Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation
- Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene
- Postinflammatorial stenoses of the pharynx in a child with Barth-syndrome
- Preliminary evidence for a cognitive phenotype in Barth syndrome
- Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
- Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
- Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
- Role of calcium-independent phospholipase A2 in the pathogenesis of Barth syndrome
- Role of cardiolipin alterations in mitochondrial dysfunction and disease
- Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain
- Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
- Sox6 regulation of cardiac myocyte development
- Structure and expression of a newt cardio-skeletal myosin gene. Implications for the C value paradox
- Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome
- Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria
- Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome
- The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study
- The cardiolipin transacylase, tafazzin, associates with two distinct respiratory components providing insight into Barth syndrome
- Two brothers with heart defects and limb shortening: case reports and review
- Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects
- Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
- Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
- X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts