Published in JAMA on March 13, 2002
Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab (2005) 2.72
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. Cell Stem Cell (2013) 2.33
Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. Cardiovasc Res (2014) 2.25
Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes. Heart Fail Rev (2005) 2.10
Acceleration of crossbridge kinetics by protein kinase A phosphorylation of cardiac myosin binding protein C modulates cardiac function. Circ Res (2008) 2.07
Transgenerational genetic effects on phenotypic variation and disease risk. Hum Mol Genet (2009) 2.01
Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest (2013) 1.97
Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med (2010) 1.90
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet (2013) 1.80
Apical hypertrophic cardiomyopathy might lead to misdiagnosis of ischaemic heart disease. Int J Cardiovasc Imaging (2008) 1.74
Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. Circulation (2004) 1.72
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70
A systematic approach to assessing the clinical significance of genetic variants. Clin Genet (2013) 1.63
Myocardial tissue tagging with cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2009) 1.56
Mechanisms of disease: hypertrophic cardiomyopathy. Nat Rev Cardiol (2011) 1.55
Low-grade inflammation and the phenotypic expression of myocardial fibrosis in hypertrophic cardiomyopathy. Heart (2012) 1.54
Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy. Circ Cardiovasc Genet (2012) 1.53
Cardiotoxic overdose treated with intravenous fat emulsion and high-dose insulin in the setting of hypertrophic cardiomyopathy. J Med Toxicol (2011) 1.51
Clinical utility of cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson (2012) 1.51
Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med (2016) 1.42
Relation of pulse pressure to blood pressure response to exercise in patients with hypertrophic cardiomyopathy. Am J Cardiol (2010) 1.41
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation. J Clin Invest (2011) 1.39
Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circ Res (2005) 1.34
The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2012) 1.32
Resolution of established cardiac hypertrophy and fibrosis and prevention of systolic dysfunction in a transgenic rabbit model of human cardiomyopathy through thiol-sensitive mechanisms. Circulation (2009) 1.30
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol (2008) 1.30
Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function. Proc Natl Acad Sci U S A (2006) 1.29
Coronary microvascular dysfunction: an update. Eur Heart J (2013) 1.28
Hypertrophic cardiomyopathy with midventricular obstruction and apical aneurysm formation in a single family: case report. Cardiovasc Ultrasound (2009) 1.25
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Mol Genet (2007) 1.23
Diffuse myocardial fibrosis in hypertrophic cardiomyopathy can be identified by cardiovascular magnetic resonance, and is associated with left ventricular diastolic dysfunction. J Cardiovasc Magn Reson (2012) 1.18
Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute. Circulation (2010) 1.18
Management of hypertrophic cardiomyopathy. BMJ (2006) 1.18
Sudden cardiac death in young athletes; a literature review and special considerations in Asia. Asian J Sports Med (2011) 1.18
The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy. Cardiovasc Res (2009) 1.16
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. J Biol Chem (2009) 1.16
Canadian Cardiovascular Society Consensus Conference guidelines on heart failure--2008 update: best practices for the transition of care of heart failure patients, and the recognition, investigation and treatment of cardiomyopathies. Can J Cardiol (2008) 1.15
Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice. Cardiovasc Res (2009) 1.15
Overexpression of bone morphogenetic protein 10 in myocardium disrupts cardiac postnatal hypertrophic growth. J Biol Chem (2006) 1.12
Contemporary treatment of hypertrophic cardiomyopathy. Tex Heart Inst J (2009) 1.12
Association of myocardial fibrosis, electrocardiography and ventricular tachyarrhythmia in hypertrophic cardiomyopathy: a delayed contrast enhanced MRI study. Int J Cardiovasc Imaging (2008) 1.11
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart (2003) 1.11
Prevalence and clinical correlates of QT prolongation in patients with hypertrophic cardiomyopathy. Eur Heart J (2011) 1.11
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med (2014) 1.10
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circ Cardiovasc Genet (2012) 1.10
Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet (2006) 1.10
Solution structure of human cardiac troponin C in complex with the green tea polyphenol, (-)-epigallocatechin 3-gallate. J Biol Chem (2009) 1.08
Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy. Ann Intern Med (2010) 1.07
New insights into the pathology of inherited cardiomyopathy. Heart (2005) 1.06
Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin. Hum Mol Genet (2011) 1.05
Evolution of expression of cardiac phenotypes over a 4-year period in the beta-myosin heavy chain-Q403 transgenic rabbit model of human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2004) 1.03
Reproducibility of in-vivo diffusion tensor cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson (2012) 1.02
Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy. J Mol Cell Cardiol (2010) 1.02
Extent of late gadolinium enhancement detected by cardiovascular magnetic resonance correlates with the inducibility of ventricular tachyarrhythmia in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson (2010) 1.02
Developmental origins of hypertrophic cardiomyopathy phenotypes: a unifying hypothesis. Nat Rev Cardiol (2009) 1.01
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experience. J Med Genet (2002) 1.01
Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state. Biophys J (2009) 1.00
The ubiquitin proteasome system in human cardiomyopathies and heart failure. Am J Physiol Heart Circ Physiol (2013) 0.99
Sarcomere gene mutations in hypertrophy and heart failure. J Cardiovasc Transl Res (2010) 0.99
Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness. J Cardiovasc Magn Reson (2011) 0.99
Effects of resistance training on ventricular function and hypertrophy in a rat model. Clin Med Res (2007) 0.98
Comparison of ventricular structure and function in Chinese patients with heart failure and ejection fractions >55% versus 40% to 55% versus <40%. Am J Cardiol (2009) 0.97
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A (2013) 0.97
CMR findings in patients with hypertrophic cardiomyopathy and atrial fibrillation. J Cardiovasc Magn Reson (2009) 0.97
Neonatal gene transfer of Serca2a delays onset of hypertrophic remodeling and improves function in familial hypertrophic cardiomyopathy. J Mol Cell Cardiol (2010) 0.97
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. J Mol Biol (2012) 0.97
Unexpected refractory intra-operative hypotension during non-cardiac surgery: Diagnosis and management guided by trans-oesophageal echocardiography. Indian J Anaesth (2014) 0.96
Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes. J Mol Cell Cardiol (2010) 0.96
How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2010) 0.96
Papillary Thyroid Carcinoma Treated with Radiofrequency Ablation in a Patient with Hypertrophic Cardiomyopathy: A Case Report. Korean J Radiol (2016) 0.95
Hypertrophic cardiomyopathy. Heart Fail Clin (2010) 0.95
Evidence that pharmacological strategies lack efficacy for the prevention of sudden death in hypertrophic cardiomyopathy. Heart (2007) 0.95
Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy. Am Heart J (2008) 0.94
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart (2004) 0.94
Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. Curr Mol Med (2012) 0.94
ENerGetIcs in hypertrophic cardiomyopathy: traNslation between MRI, PET and cardiac myofilament function (ENGINE study). Neth Heart J (2013) 0.94
The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study. J Mol Diagn (2008) 0.94
Heart failure in sub-Saharan Africa. Curr Cardiol Rev (2013) 0.94
Coronary flow reserve in hypertrophic cardiomyopathy: relation with microvascular dysfunction and pathophysiological characteristics. Neth Heart J (2007) 0.93
Restrictive physiology is associated with poor outcomes in children with hypertrophic cardiomyopathy. Pediatr Cardiol (2011) 0.93
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. J Clin Pathol (2005) 0.93
Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet (2010) 0.92
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. Mayo Clin Proc (2014) 0.92
Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. PLoS Genet (2011) 0.92
Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin. J Theor Biol (2011) 0.92
Evaluation of left ventricular outflow tract gradient during treadmill exercise and in recovery period in orthostatic position, in patients with hypertrophic cardiomyopathy. Cardiovasc Ultrasound (2008) 0.92
Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein. J Mol Cell Cardiol (2011) 0.92
Coronary microvascular ischemia in hypertrophic cardiomyopathy - a pixel-wise quantitative cardiovascular magnetic resonance perfusion study. J Cardiovasc Magn Reson (2014) 0.92
Thin filament incorporation of an engineered cardiac troponin C variant (L48Q) enhances contractility in intact cardiomyocytes from healthy and infarcted hearts. J Mol Cell Cardiol (2014) 0.92
Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse. J Biol Chem (2011) 0.91
A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. J Biol Chem (2012) 0.91
The missing spade: apical hypertrophic cardiomyopathy investigation. Int J Cardiovasc Imaging (2008) 0.90
Experimental therapies in hypertrophic cardiomyopathy. J Cardiovasc Transl Res (2009) 0.90
Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy. Eur Heart J (2010) 0.89
Focal energy deprivation underlies arrhythmia susceptibility in mice with calcium-sensitized myofilaments. Circ Res (2013) 0.89
Myocardial fibrosis detected by cardiac CT predicts ventricular fibrillation/ventricular tachycardia events in patients with hypertrophic cardiomyopathy. J Cardiovasc Comput Tomogr (2013) 0.89
Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin. Biochem Biophys Res Commun (2011) 0.89
Induction and reversal of cardiac phenotype of human hypertrophic cardiomyopathy mutation cardiac troponin T-Q92 in switch on-switch off bigenic mice. J Am Coll Cardiol (2004) 0.89
Prognostic value of contrast-enhanced cardiac magnetic resonance imaging in patients with newly diagnosed non-ischemic cardiomyopathy: cohort study. PLoS One (2013) 0.89
Clinical profile and spectrum of commotio cordis. JAMA (2002) 1.86