The genetics of dilated cardiomyopathy.

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Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet (2012) 2.00

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Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail (2012) 1.32

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Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. Proc Natl Acad Sci U S A (2011) 1.12

Next generation sequencing in cardiovascular diseases. World J Cardiol (2012) 1.04

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. Circ Cardiovasc Genet (2012) 1.02

Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells. Aging (Albany NY) (2012) 1.00

Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response. PLoS Genet (2014) 1.00

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart J (2015) 1.00

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun (2015) 0.99

Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. J Biol Chem (2012) 0.96

Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J (2013) 0.94

Heart failure in sub-Saharan Africa. Curr Cardiol Rev (2013) 0.94

Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet (2011) 0.93

RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet (2014) 0.93

Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. PLoS One (2013) 0.92

Role of cardiac magnetic resonance in the evaluation of dilated cardiomyopathy: diagnostic contribution and prognostic significance. ISRN Radiol (2014) 0.86

Molecular mechanisms of cardiomyopathy phenotypes associated with myosin light chain mutations. J Muscle Res Cell Motil (2015) 0.85

Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A (2011) 0.84

Polymorphism in the alpha cardiac muscle actin 1 gene is associated to susceptibility to chronic inflammatory cardiomyopathy. PLoS One (2013) 0.84

Genetics: broken giant linked to heart failure. Nature (2012) 0.84

Dysfunctional conformational dynamics of protein kinase A induced by a lethal mutant of phospholamban hinder phosphorylation. Proc Natl Acad Sci U S A (2015) 0.84

Linker of nucleoskeleton and cytoskeleton complex proteins in cardiac structure, function, and disease. Circ Res (2014) 0.83

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy. BMJ Case Rep (2013) 0.82

Dilated cardiomyopathy. Circ Arrhythm Electrophysiol (2012) 0.81

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain. FEBS J (2015) 0.80

TNNT2 gene polymorphisms are associated with susceptibility to idiopathic dilated cardiomyopathy in the Han Chinese population. Biomed Res Int (2013) 0.80

Cardiac-specific deletion of the microtubule-binding protein CENP-F causes dilated cardiomyopathy. Dis Model Mech (2012) 0.79

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies. BMC Med Genet (2013) 0.79

Effects of naturally occurring arginine 14 deletion on phospholamban conformational dynamics and membrane interactions. Biochim Biophys Acta (2014) 0.78

Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. J Biol Chem (2015) 0.77

TNNT2 Gene Polymorphisms are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in Kazak and Han Chinese. Med Sci Monit (2015) 0.76

Prioritizing disease candidate proteins in cardiomyopathy-specific protein-protein interaction networks based on "guilt by association" analysis. PLoS One (2013) 0.76

Cardiac troponin T (TNNT2) mutations in chinese dilated cardiomyopathy patients. Biomed Res Int (2014) 0.75

It's never too early to look: subclinical disease in sarcomeric dilated cardiomyopathy. Circ Cardiovasc Genet (2012) 0.75

Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy. Stem Cell Res Ther (2016) 0.75

Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis. Hum Mol Genet (2017) 0.75

Genetic Variations Leading to Familial Dilated Cardiomyopathy. Mol Cells (2016) 0.75

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C. Eur J Hum Genet (2016) 0.75

Finding the missing heritability of complex diseases. Nature (2009) 67.95

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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26

Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol (2005) 6.47

1000 Genomes project. Nat Biotechnol (2008) 5.73

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med (1999) 5.61

Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance. J Am Coll Cardiol (2008) 4.51

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med (2000) 4.30

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA (2005) 3.89

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science (2003) 3.71

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. J Card Fail (2009) 3.54

The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med (1992) 3.53

Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol (1999) 3.38

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet (2007) 3.26

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science (1998) 3.22

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol (2003) 3.20

Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J (2004) 3.02

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation (2004) 3.01

Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation (2008) 2.93

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) (2004) 2.81

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet (2002) 2.67

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol (2009) 2.53

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J (2008) 2.48

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab (2003) 2.42

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol (2004) 2.40

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet (1996) 2.22

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci (2008) 2.17

Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet (1998) 2.17

Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med (2006) 2.16

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol (2002) 2.15

The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules. J Mol Biol (2003) 2.12

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J (2005) 2.07

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A (2006) 2.05

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med (2000) 2.04

Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol (1998) 2.03

Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol (2008) 1.97

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol (2001) 1.92

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest (2000) 1.91

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet (2008) 1.83

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol (2010) 1.83

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res (2009) 1.83

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet (2005) 1.80

Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet (2009) 1.80

Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol (1999) 1.71

Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem Biophys Res Commun (2002) 1.70

Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations. J Am Coll Cardiol (2006) 1.63

A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A (1998) 1.61

The laminopathies: a clinical review. Clin Genet (2006) 1.59

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol (2000) 1.58

Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol (2009) 1.48

Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance. J Am Coll Cardiol (2009) 1.48

Cardiac magnetic resonance detection of myocardial scarring in hypertrophic cardiomyopathy: correlation with histopathology and prevalence of ventricular tachycardia. J Am Coll Cardiol (2009) 1.44

Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44

From A to Z and back? Multicompartment proteins in the sarcomere. Trends Cell Biol (2005) 1.43

Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet (2004) 1.38

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J (2007) 1.38

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat (2005) 1.37

Usefulness of cardiac magnetic resonance in assessing the risk of ventricular arrhythmias and sudden death in patients with hypertrophic cardiomyopathy. Eur Heart J (2009) 1.35

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet (2009) 1.28

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet (2000) 1.25

ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol (2009) 1.22

Cardiac titin: structure, functions and role in disease. Clin Chim Acta (2006) 1.20

Emerin and the nuclear lamina in muscle and cardiac disease. Circ Res (2008) 1.19

The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet (2009) 1.15

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol (2008) 1.12

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet (2009) 1.07

Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm (2009) 1.07

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol (2006) 1.04

LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord (2003) 1.03

Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach. J Cardiovasc Magn Reson (2008) 1.01

Lamin A/C and cardiac diseases. Curr Opin Cardiol (2006) 0.99

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol (2005) 0.96

Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Neuromuscul Disord (2005) 0.93

Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy. J Am Coll Cardiol (2000) 0.91

Myocardial scar detected by contrast-enhanced cardiac magnetic resonance imaging is associated with ventricular tachycardia in hypertrophic cardiomyopathy patients. Heart Lung Circ (2008) 0.90

Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations. Congest Heart Fail (2008) 0.90

Gene mutations in adult Japanese patients with dilated cardiomyopathy. Circ J (2005) 0.89

Lamina-associated polypeptide 2alpha loss impairs heart function and stress response in mice. Circ Res (2009) 0.89

Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol (2008) 0.87

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord (2000) 0.85

Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. J Cardiovasc Magn Reson (2008) 0.85

Regional abnormalities of myocardial deformation in patients with hypertrophic cardiomyopathy: correlations with delayed enhancement in cardiac magnetic resonance. Eur J Heart Fail (2009) 0.83

CMR gives clue to "ragged red fibers" in the heart in a patient with mitochondrial myopathy. Int J Cardiol (2009) 0.83

Spontaneous coronary vasospasm in KATP mutant mice arises from a smooth muscle-extrinsic process. Circ Res (2006) 2.64

Bacillus anthracis edema toxin causes extensive tissue lesions and rapid lethality in mice. Am J Pathol (2005) 2.45

The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res (2004) 2.29

Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro. FEBS Lett (2002) 2.24

Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K(ATP) channels. J Clin Invest (2002) 2.11

Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annu Rev Physiol (2009) 2.03

Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. J Cell Sci (2002) 2.02

Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet (2012) 2.00

Normal myoblast fusion requires myoferlin. Development (2005) 1.97

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet (2008) 1.83

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Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem (2002) 1.73

Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. J Clin Invest (2009) 1.67

Age-dependent effect of myostatin blockade on disease severity in a murine model of limb-girdle muscular dystrophy. Am J Pathol (2006) 1.64

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol (2013) 1.63

Functional nitric oxide synthase mislocalization in cardiomyopathy. J Mol Cell Cardiol (2004) 1.58

Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol (2009) 1.48

The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion. J Biol Chem (2008) 1.45

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Genetic background influences muscular dystrophy. Neuromuscul Disord (2005) 1.34

Nesprin-1alpha contributes to the targeting of mAKAP to the cardiac myocyte nuclear envelope. Exp Cell Res (2005) 1.34

S100A12 in vascular smooth muscle accelerates vascular calcification in apolipoprotein E-null mice by activating an osteogenic gene regulatory program. Arterioscler Thromb Vasc Biol (2010) 1.32

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Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle. J Clin Invest (2004) 1.23

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Repairing the tears: dysferlin in muscle membrane repair. Trends Mol Med (2003) 1.21

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Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J Biol Chem (2007) 1.19

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Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J Clin Invest (2004) 1.14

Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development. Dev Dyn (2010) 1.13

Mice lacking sulfonylurea receptor 2 (SUR2) ATP-sensitive potassium channels are resistant to acute cardiovascular stress. J Mol Cell Cardiol (2007) 1.13

Sulfonylurea receptor-dependent and -independent pathways mediate vasodilation induced by ATP-sensitive K+ channel openers. Mol Pharmacol (2008) 1.13

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SMAD signaling drives heart and muscle dysfunction in a Drosophila model of muscular dystrophy. Hum Mol Genet (2010) 1.10

Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy. Am J Pathol (2009) 1.08

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet (2009) 1.07

Advocacy: yes we can. J Clin Invest (2012) 1.07

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair. Proc Natl Acad Sci U S A (2014) 1.07

TBX5 drives Scn5a expression to regulate cardiac conduction system function. J Clin Invest (2012) 1.06

Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion. J Biol Chem (2010) 1.05

Distinct genetic regions modify specific muscle groups in muscular dystrophy. Physiol Genomics (2010) 1.05

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Emery-Dreifuss muscular dystrophy. Handb Clin Neurol (2011) 1.01

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Myoferlin is required for insulin-like growth factor response and muscle growth. FASEB J (2009) 0.99

Ferlin proteins in myoblast fusion and muscle growth. Curr Top Dev Biol (2011) 0.98

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Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet (2006) 0.93

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Secondary coronary artery vasospasm promotes cardiomyopathy progression. Am J Pathol (2004) 0.91

The superhealing MRL background improves muscular dystrophy. Skelet Muscle (2012) 0.90

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Myoferlin regulation by NFAT in muscle injury, regeneration and repair. J Cell Sci (2010) 0.87

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Modifiers of heart and muscle function: where genetics meets physiology. Exp Physiol (2013) 0.86

Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart. Circulation (2008) 0.86

Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy. Am J Pathol (2008) 0.86

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord (2007) 0.86

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Genetic deletion of NOS3 increases lethal cardiac dysfunction following mouse cardiac arrest. Resuscitation (2010) 0.83

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The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice. Am J Physiol Heart Circ Physiol (2010) 0.82

Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation. Am J Physiol Heart Circ Physiol (2010) 0.81

Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping. J Clin Invest (2015) 0.80

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The interaction of coronary tone and cardiac fibrosis. Curr Atheroscler Rep (2005) 0.79

The emerging genetic landscape underlying cardiac conduction system function. Birth Defects Res A Clin Mol Teratol (2011) 0.79

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Regenerating more than muscle in muscular dystrophy. Circulation (2004) 0.77

Dynamin 2 the rescue for centronuclear myopathy. J Clin Invest (2014) 0.77

Hypertrophic cardiomyopathy: exercise and eat right. Circ Res (2006) 0.77

Welcome to the splice age: antisense oligonucleotide-mediated exon skipping gains wider applicability. J Clin Invest (2016) 0.75

Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy. J Clin Invest (2017) 0.75

Better living through peptide-conjugated chemistry: next-generation antisense oligonucleotides. J Clin Invest (2019) 0.75