Published in Circulation on March 06, 2001
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. Nat Med (2014) 3.23
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol (2009) 2.54
BMP10 is essential for maintaining cardiac growth during murine cardiogenesis. Development (2004) 2.50
Isolated ventricular non-compaction of the myocardium in adults. Heart (2006) 2.29
Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy. Am J Med Genet A (2013) 2.03
Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. J Inherit Metab Dis (2012) 1.66
Isolated non-compaction cardiomyopathy. Dtsch Arztebl Int (2010) 1.49
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat Med (2013) 1.49
A Striking Coronary Artery Pattern in a Grown-Up Congenital Heart Disease Patient. Case Rep Cardiol (2016) 1.41
Isolated noncompaction of the left ventricular myocardium -- a review of the literature two decades after the initial case description. Clin Res Cardiol (2007) 1.18
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn (2010) 1.17
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS One (2007) 1.15
Genetics of inherited cardiomyopathy. Eur Heart J (2011) 1.11
Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet (2015) 1.02
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
Noncompaction of the ventricular myocardium combined with polycystic kidney disease. Heart Vessels (2006) 1.00
Genotype, phenotype: upstairs, downstairs in the family of cardiomyopathies. J Clin Invest (2003) 0.99
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol (2017) 0.98
Tissue specificity in the nuclear envelope supports its functional complexity. Nucleus (2013) 0.96
Dynamic functional modules in co-expressed protein interaction networks of dilated cardiomyopathy. BMC Syst Biol (2010) 0.96
Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation. Pediatr Cardiol (2012) 0.95
Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes. Front Genet (2015) 0.95
Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol (2012) 0.92
Pitfalls in the diagnosis of left ventricular hypertrabeculation/non-compaction. Postgrad Med J (2006) 0.91
Embryogenesis of the heart muscle. Heart Fail Clin (2008) 0.91
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. Orphanet J Rare Dis (2013) 0.91
A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report. Heart Vessels (2012) 0.89
Comparison of cardiovascular magnetic resonance characteristics and clinical consequences in children and adolescents with isolated left ventricular non-compaction with and without late gadolinium enhancement. J Cardiovasc Magn Reson (2015) 0.89
Eponym: Barth syndrome. Eur J Pediatr (2011) 0.89
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet (2007) 0.88
Isolated left ventricular non-compaction: cardiomyopathy with homogeneous transmural and heterogeneous segmental perfusion. Heart (2003) 0.88
Dystrobrevin increases dystrophin's binding to the dystrophin-glycoprotein complex and provides protection during cardiac stress. J Mol Cell Cardiol (2014) 0.88
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. Eur J Pediatr (2011) 0.87
A Rare Case of Renal Infarct due to Noncompaction Cardiomyopathy: A Case Report and Literature Review. Case Rep Cardiol (2016) 0.87
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Rev Mol Diagn (2010) 0.85
A case of noncompaction of the ventricular myocardium combined with situs ambiguous with polysplenia. Yonsei Med J (2007) 0.85
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. J Lipid Res (2011) 0.84
Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Mol Genet Metab (2012) 0.84
Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat. BMC Biol (2009) 0.82
Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction. Eur J Pediatr (2006) 0.82
An overview of inborn errors of complex lipid biosynthesis and remodelling. J Inherit Metab Dis (2014) 0.81
Diagnosis of left ventricular noncompaction by computed tomography. Proc (Bayl Univ Med Cent) (2012) 0.81
Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol (2005) 0.80
Left ventricular noncompaction: a rare cause of hydrops fetalis. Pediatr Cardiol (2009) 0.80
Primary noncompaction of the ventricular myocardium from the morphogenetic standpoint. Pediatr Cardiol (2007) 0.80
Left ventricular non-compaction -challenges and controversies. Maedica (Buchar) (2014) 0.80
Fetal diagnosis of left-ventricular noncompaction cardiomyopathy in identical twins with discordant congenital heart disease. Pediatr Cardiol (2012) 0.80
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. Front Genet (2016) 0.80
Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry. J Card Fail (2015) 0.80
A teenager with Marfan syndrome and left ventricular noncompaction. Pediatr Cardiol (2009) 0.80
Transient cardiac arrest in patient with left ventricular noncompaction (spongiform cardiomyopathy). Anesth Prog (2011) 0.79
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomy. Eur J Pediatr (2005) 0.79
Knockout of SRC-1 and SRC-3 in Mice Decreases Cardiomyocyte Proliferation and Causes a Noncompaction Cardiomyopathy Phenotype. Int J Biol Sci (2015) 0.79
Isolated left ventricular noncompaction causing stroke in a 30-year-old woman: case report and literature review. Tex Heart Inst J (2013) 0.79
Left ventricular noncompaction in Duchenne muscular dystrophy. J Cardiovasc Magn Reson (2013) 0.79
Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Future Cardiol (2013) 0.79
Left ventricular noncompaction and myocardial fibrosis: a case report. Int Arch Med (2010) 0.78
Differing clinical courses and outcomes in two siblings with Barth syndrome and left ventricular noncompaction. Eur J Pediatr (2011) 0.78
Isolated left ventricular noncompaction: unusual cause of decompensated heart failure and indication of heart transplantation in the early infancy--case report and literature review. Clinics (Sao Paulo) (2008) 0.78
Cardiac MRI and CT features of inheritable and congenital conditions associated with sudden cardiac death. Eur Radiol (2008) 0.78
A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum Genet (2005) 0.77
Heart failure in congenital heart disease: a confluence of acquired and congenital. Heart Fail Clin (2014) 0.77
The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol (2015) 0.77
Isolated noncompaction of myocardium associated with calcification in the interventricular septum. Pediatr Cardiol (2003) 0.77
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. Heart Vessels (2014) 0.76
The Impact of Concomitant Left Ventricular Non-compaction with Congenital Heart Disease on Perioperative Outcomes. Pediatr Cardiol (2016) 0.76
The role of α-dystrobrevin in striated muscle. Int J Mol Sci (2011) 0.76
Implications of genetic testing in noncompaction/hypertrabeculation. Am J Med Genet C Semin Med Genet (2013) 0.76
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med (2016) 0.76
Multidisciplinary diagnostic approach for left ventricular hypertrabeculation/noncompaction. Yonsei Med J (2005) 0.76
A rare form of cardiomyopathy: left ventricular non-compaction cardiomyopathy. J Community Hosp Intern Med Perspect (2016) 0.76
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. Hum Mol Genet (2015) 0.76
A rare case of heterotaxy and left ventricular non-compaction in an adult. Cardiovasc J Afr (2015) 0.75
Biventricular Noncompaction Cardiomyopathy in an Adult with Unique Facial Dysmorphisms: Case Report and Brief Review. Case Rep Cardiol (2015) 0.75
The pathogenicity of genetic variants previously associated with left ventricular non-compaction. Mol Genet Genomic Med (2015) 0.75
Left Ventricular Non-Compaction Syndrome Misdiagnosed as Dilated Cardiomyopathy on Several Occasions, Presenting With Recurrent Stroke. Cardiol Res (2014) 0.75
Serum proteomic profiles in CKCS with Mitral valve disease. BMC Vet Res (2017) 0.75
Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology. PLoS One (2013) 0.75
Non-compaction of the ventricular myocardium. Heart Int (2006) 0.75
Nkx2-5 and Sarcospan genetically interact in the development of the muscular ventricular septum of the heart. Sci Rep (2017) 0.75
[Isolated noncompaction cardiomyopathy with special emphasis on arrhythmia complications]. Herzschrittmacherther Elektrophysiol (2012) 0.75
A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction. J Am Heart Assoc (2017) 0.75
Precision medicine approach to genetic cardiomyopathy. Herz (2017) 0.75
A gas-liquid solid phase peptide and protein sequenator. J Biol Chem (1981) 15.73
Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet (1994) 10.14
Modular chemistry: secondary building units as a basis for the design of highly porous and robust metal-organic carboxylate frameworks. Acc Chem Res (2001) 9.19
Regulatory element detection using correlation with expression. Nat Genet (2001) 8.92
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation (2000) 7.50
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature (1998) 7.26
Notch signalling controls pancreatic cell differentiation. Nature (1999) 7.18
Crystal structure of a T-cell receptor beta-chain complexed with a superantigen. Nature (1996) 7.11
Refined structure of alpha beta-tubulin at 3.5 A resolution. J Mol Biol (2001) 7.08
Mechanical unfolding intermediates in titin modules. Nature (1999) 6.12
Highly purified CD44+ prostate cancer cells from xenograft human tumors are enriched in tumorigenic and metastatic progenitor cells. Oncogene (2006) 5.86
High-sensitivity sequencing with a gas-phase sequenator. Methods Enzymol (1983) 5.36
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
A major role for VCAM-1, but not ICAM-1, in early atherosclerosis. J Clin Invest (2001) 4.98
The molecular basis of antibody formation: a paradox. Proc Natl Acad Sci U S A (1965) 4.68
An rpsL cassette, janus, for gene replacement through negative selection in Streptococcus pneumoniae. Appl Environ Microbiol (2001) 4.59
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res (1999) 4.57
Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation (1995) 4.48
A mouse model for spinal muscular atrophy. Nat Genet (2000) 4.37
Rhodopsin content in the outer segment membranes of bovine and frog retinal rods. Biochemistry (1974) 4.34
Neutralizing antibody responses in acute human immunodeficiency virus type 1 subtype C infection. J Virol (2007) 4.13
Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation (2000) 3.99
Mechanisms underlying endothelial dysfunction in diabetes mellitus. Circ Res (2001) 3.89
PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor. Nat Cell Biol (2000) 3.81
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation (1995) 3.79
Patterns of vascular cell adhesion molecule-1 and intercellular adhesion molecule-1 expression in rabbit and mouse atherosclerotic lesions and at sites predisposed to lesion formation. Circ Res (1999) 3.69
Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet (2004) 3.45
Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med (1998) 3.41
Oral ganciclovir for patients with cytomegalovirus retinitis treated with a ganciclovir implant. Roche Ganciclovir Study Group. N Engl J Med (1999) 3.38
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
Proton-pump inhibitors and risk of fractures: an update meta-analysis. Osteoporos Int (2016) 3.30
Crystal structure of constitutive endothelial nitric oxide synthase: a paradigm for pterin function involving a novel metal center. Cell (1998) 3.20
Building a dictionary for genomes: identification of presumptive regulatory sites by statistical analysis. Proc Natl Acad Sci U S A (2000) 3.18
Structure of translation factor eIF4E bound to m7GDP and interaction with 4E-binding protein. Nat Struct Biol (1997) 3.14
Hormone-dependent, CARM1-directed, arginine-specific methylation of histone H3 on a steroid-regulated promoter. Curr Biol (2001) 3.09
Metastasis stage, adjuvant treatment, and residual tumor are prognostic factors for medulloblastoma in children: conclusions from the Children's Cancer Group 921 randomized phase III study. J Clin Oncol (1999) 3.08
Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J (2002) 3.01
Mechanical design of proteins studied by single-molecule force spectroscopy and protein engineering. Prog Biophys Mol Biol (2000) 3.00
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation (2000) 2.95
TMPRSS2-ERG fusion, a common genomic alteration in prostate cancer activates C-MYC and abrogates prostate epithelial differentiation. Oncogene (2008) 2.94
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA (2001) 2.89
Identification of coryneform bacterial isolates by ribosomal DNA sequence analysis. J Clin Microbiol (2000) 2.87
Validation of near-infrared spectroscopy in humans. J Appl Physiol (1985) (1994) 2.77
Mechanism of antibody synthesis: size differences between mouse kappa chains. Science (1967) 2.77
tRNA splicing. J Biol Chem (1998) 2.77
Current neurosurgical management and the impact of the extent of resection in the treatment of malignant gliomas of childhood: a report of the Children's Cancer Group trial no. CCG-945. J Neurosurg (1998) 2.75
Feasibility of a high-speed gamma-camera design using the high-yield-pileup-event-recovery method. J Nucl Med (2001) 2.69
Detection of Coxsackie-B-virus-specific RNA sequences in myocardial biopsy samples from patients with myocarditis and dilated cardiomyopathy. Lancet (1986) 2.68
The failing heart. Nature (2002) 2.66
Targeted disruption of the murine VCAM1 gene: essential role of VCAM-1 in chorioallantoic fusion and placentation. Genes Dev (1995) 2.61
Postviral fatigue syndrome: persistence of enterovirus RNA in muscle and elevated creatine kinase. J R Soc Med (1988) 2.60
Solution structure of BID, an intracellular amplifier of apoptotic signaling. Cell (1999) 2.58
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet (1999) 2.57
The Brugada syndrome: clinical, electrophysiologic and genetic aspects. J Am Coll Cardiol (1999) 2.56
Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56
Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation (1998) 2.53
Fps1p controls the accumulation and release of the compatible solute glycerol in yeast osmoregulation. Mol Microbiol (1999) 2.52
LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons. Cell (1998) 2.50
Nephrin mediates actin reorganization via phosphoinositide 3-kinase in podocytes. Kidney Int (2007) 2.44
Clinical and genetic characteristics of type 2 diabetes with and without GAD antibodies. Diabetes (1999) 2.36
Changing sexual attitudes and behaviour in China: implications for the spread of HIV and other sexually transmitted diseases. AIDS Care (1999) 2.35
An Arabidopsis mutant defective in the plastid general protein import apparatus. Science (1998) 2.35
Model-based methods for identifying periodically expressed genes based on time course microarray gene expression data. Bioinformatics (2004) 2.32
Structure of a cytochrome P450-redox partner electron-transfer complex. Proc Natl Acad Sci U S A (1999) 2.30
Targeting of lung cancer mutational hotspots by polycyclic aromatic hydrocarbons. J Natl Cancer Inst (2000) 2.27
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23
Survival and prognostic factors following radiation therapy and chemotherapy for ependymomas in children: a report of the Children's Cancer Group. J Neurosurg (1998) 2.22
Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome. Eur Heart J (2002) 2.17
Attitudes to HIV and HIV testing in high prevalence areas of China: informing the introduction of voluntary counselling and testing programmes. Sex Transm Infect (2005) 2.14
Isolation and characterization of a cDNA clone for the gamma subunit of bovine retinal transducin. Proc Natl Acad Sci U S A (1984) 2.12
Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia. J Biol Chem (1994) 2.09
Human herpes virus 6 in archival cardiac tissues from children with idiopathic dilated cardiomyopathy or congenital heart disease. J Clin Pathol (2008) 2.07
Hoxa 11 structure, extensive antisense transcription, and function in male and female fertility. Development (1995) 2.03
Comparison of protein A gene sequencing with pulsed-field gel electrophoresis and epidemiologic data for molecular typing of methicillin-resistant Staphylococcus aureus. J Clin Microbiol (2000) 2.03
Occurrence of a new metallo-beta-lactamase IMP-4 carried on a conjugative plasmid in Citrobacter youngae from the People's Republic of China. FEMS Microbiol Lett (2001) 2.01
Apoptosis primarily accounts for the growth-inhibitory properties of sulindac metabolites and involves a mechanism that is independent of cyclooxygenase inhibition, cell cycle arrest, and p53 induction. Cancer Res (1997) 2.00
Vaginal bilateral cervical lips suture in combination with intrauterine Foley catheter to arrest postpartum hemorrhage. Clin Exp Obstet Gynecol (2015) 2.00
Exisulind induction of apoptosis involves guanosine 3',5'-cyclic monophosphate phosphodiesterase inhibition, protein kinase G activation, and attenuated beta-catenin. Cancer Res (2000) 2.00
A 52-week study of the efficacy of rivastigmine in patients with mild to moderately severe Alzheimer's disease. Eur Neurol (2000) 1.98
Amplification of target-specific, ligation-dependent circular probe. Gene (1998) 1.96
Sulindac sulfone inhibits azoxymethane-induced colon carcinogenesis in rats without reducing prostaglandin levels. Cancer Res (1997) 1.96
Anti-RhoA and anti-RhoC siRNAs inhibit the proliferation and invasiveness of MDA-MB-231 breast cancer cells in vitro and in vivo. Mol Ther (2005) 1.95
Isolation of the fundamental polypeptide subunits of biological membranes. Proc Natl Acad Sci U S A (1970) 1.95
The DExH box protein Suv3p is a component of a yeast mitochondrial 3'-to-5' exoribonuclease that suppresses group I intron toxicity. Cell (1996) 1.94
Differential expression of bcl-2 and susceptibility to anti-Fas-mediated cell death in peripheral blood lymphocytes, monocytes, and neutrophils. Blood (1994) 1.94
Invited letter concerning: neutrophil activation during cardiopulmonary bypass. J Thorac Cardiovasc Surg (1991) 1.93
Molecular characterization of the beta-N-acetylglucosaminidase of Escherichia coli and its role in cell wall recycling. J Bacteriol (2000) 1.93
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest (2000) 1.91
Inflammation in the course of early myocardial ischemia. FASEB J (1991) 1.90
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet (1997) 1.90
Sterol methyltransferase 1 controls the level of cholesterol in plants. Plant Cell (2000) 1.89
The complete sequence of hepatitis E virus genotype 4 reveals an alternative strategy for translation of open reading frames 2 and 3. J Gen Virol (2000) 1.89
Gamma delta T-cell receptor repertoire in acute multiple sclerosis lesions. Proc Natl Acad Sci U S A (1992) 1.88
Computing the Cox model for case cohort designs. Lifetime Data Anal (1999) 1.85
Fluorescent latex microspheres as a retrograde neuronal marker for in vivo and in vitro studies of visual cortex. Nature (1984) 1.85