Published in Am J Vet Res on January 01, 2001
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
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet (2000) 5.38
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
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
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
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
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation (1995) 3.79
SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet (1998) 3.51
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
Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J (2002) 3.01
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation (2000) 2.95
Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA (2001) 2.89
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
The Brugada syndrome: clinical, electrophysiologic and genetic aspects. J Am Coll Cardiol (1999) 2.56
A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55
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
When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation (2001) 2.24
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
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 2.17
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 2.16
Treatment of scan-negative, thyroglobulin-positive metastatic thyroid cancer using radioiodine 131I and recombinant human thyroid stimulating hormone. J Clin Endocrinol Metab (1997) 2.14
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet (1989) 2.12
Human herpes virus 6 in archival cardiac tissues from children with idiopathic dilated cardiomyopathy or congenital heart disease. J Clin Pathol (2008) 2.07
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest (2000) 1.91
KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet (1997) 1.90
The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. Exp Cell Res (2000) 1.89
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80
Association of viral genome with graft loss in children after cardiac transplantation. N Engl J Med (2001) 1.78
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation (1997) 1.76
Detection of microorganisms in the tracheal aspirates of preterm infants by polymerase chain reaction: association of adenovirus infection with bronchopulmonary dysplasia. Pediatr Res (2000) 1.72
Subacute postictal aggression. Neurology (1998) 1.68
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation. Hum Mol Genet (1993) 1.67
Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation (1996) 1.65
Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J (2000) 1.65
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet (1996) 1.65
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet (1998) 1.56
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity. Nat Genet (1994) 1.55
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. Circulation (1998) 1.53
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet (1996) 1.52
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. Neurology (1993) 1.52
Adjuvant arthritis as a model of inflammatory cachexia. Arthritis Rheum (1997) 1.51
Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50
Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics (1989) 1.45
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum Mol Genet (1995) 1.45
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II. Circulation (1999) 1.44
Genomic organization and alternative splicing of the human and mouse RPTPrho genes. BMC Genomics (2001) 1.44
Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res (2001) 1.43
Acute acalculous cholecystitis. Surg Gynecol Obstet (1984) 1.42
The "final common pathway" hypothesis and inherited cardiovascular disease. The role of cytoskeletal proteins in dilated cardiomyopathy. Herz (2000) 1.42
Closed head injury resulting in paradoxical improvement of a seizure disorder. Seizure (2000) 1.39
Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation (2000) 1.36
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet (1993) 1.33
Animal models of spinal muscular atrophy. Hum Mol Genet (2000) 1.30
An investigation of variables in a fecal flotation technique. Can J Comp Med (1980) 1.29
Cholescintigraphy, ultrasonography and computerized tomography in the evaluation of biliary tract disorders. Semin Nucl Med (1979) 1.29
Genetic and molecular basis of cardiac arrhythmias; impact on clinical management. Study group on molecular basis of arrhythmias of the working group on arrhythmias of the european society of cardiology. Eur Heart J (1999) 1.29
Familial hypertrophic cardiomyopathy in maine coon cats: an animal model of human disease. Circulation (1999) 1.28
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet (1999) 1.27
Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol (1999) 1.25
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol (1997) 1.23
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet (1995) 1.23
Identification of survival motor neuron as a transcriptional activator-binding protein. Hum Mol Genet (1999) 1.22
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding. Hum Mol Genet (2000) 1.21
Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med (1998) 1.20
Viral infection of the myocardium in endocardial fibroelastosis. Molecular evidence for the role of mumps virus as an etiologic agent. Circulation (1997) 1.17
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.17
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Nat Genet (1993) 1.15
Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet (1995) 1.15
Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome. J Am Coll Cardiol (2001) 1.12
Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction. Circulation (1999) 1.11
Benign extra-axial collections of infancy. Pediatr Neurosci (1987) 1.11
Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III. Circulation (1999) 1.11
Association of parvovirus B19 genome in children with myocarditis and cardiac allograft rejection: diagnosis using the polymerase chain reaction. Circulation (1997) 1.10
Improvement of repolarization abnormalities by a K+ channel opener in the LQT1 form of congenital long-QT syndrome. Circulation (1998) 1.08
Role of Tc-99m IDA scintigraphy in the evaluation of hepatobiliary trauma. Semin Nucl Med (1983) 1.07
Localization of myocardial disorders other than infarction with 99mTc-labeled phosphate agents. J Nucl Med (1976) 1.06
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics (1997) 1.06
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J Clin Invest (1996) 1.06
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics (1994) 1.05
Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT). Biochim Biophys Acta (1999) 1.05
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet (2008) 1.04
Abnormal vitamin B6 status in rheumatoid cachexia. Association with spontaneous tumor necrosis factor alpha production and markers of inflammation. Arthritis Rheum (1995) 1.04
Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: evidence from association and linkage analyses in Israeli families. Ann Hum Genet (2005) 1.02
Radiopertechnetate imaging of the Meckel's diverticulum. Radiology (1972) 1.02
Etiologies of cardiomyopathy and heart failure. Nat Med (1999) 1.02