Results 211 to 220 of about 128,678 (309)
Hypertrophic Cardiomyopathy: Current Perspectives. [PDF]
Patel D, Bhargav R, Mousa A, Bokhari S.
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
Circulating Interleukin-6 Predicts Adverse Outcomes in Asians with Hypertrophic Cardiomyopathy. [PDF]
Le TT +8 more
europepmc +1 more source
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment [PDF]
Jipin Das K +3 more
openalex +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
Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort. [PDF]
Šukys M +6 more
europepmc +1 more source
ABSTRACT Background Implantable cardioverter defibrillator (ICD) therapy can prevent sudden cardiac death, but poses a risk of inappropriate device therapy (IDT), which is linked to worse outcomes and reduced quality of life. On the other hand, ICDs can function as an early warning system for atrial arrhythmias.
Marthe J. Huntelaar +6 more
wiley +1 more source

