Results 211 to 220 of about 310,703 (307)
Multimodality imaging in hypertrophic cardiomyopathy. [PDF]
Kim J, Lee SC.
europepmc +1 more source
Abstract A 10‐year‐old, female, spayed Pitbull mix presented for evaluation of an arrhythmia. Echocardiography revealed enlargement of all cardiac chambers and decreased left ventricular systolic function. Electrocardiography demonstrated isolated, ventricular premature complexes.
Nathan Mitchell +3 more
wiley +1 more source
Editorial: Hypertrophic Cardiomyopathy and Precision Medicine in Cardiovascular Disease. [PDF]
Parums DV.
europepmc +1 more source
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers
Massimiliano Lorenzini +9 more
semanticscholar +1 more source
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong +9 more
wiley +1 more source
Outcomes of Alcohol Septal Ablation vs Transaortic Septal Myectomy in Elderly Patients With Obstructive Hypertrophic Cardiomyopathy. [PDF]
Sawma T +7 more
europepmc +1 more source
ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve +26 more
wiley +1 more source
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high‐intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in ...
Heidrun H. Krämer‐Best +8 more
wiley +1 more source

