A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement.

The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. EMBO J (2006) 1.61

Correlation of metastasis-related gene expression with metastatic potential in human prostate carcinoma cells implanted in nude mice using an in situ messenger RNA hybridization technique. Am J Pathol (1997) 1.23

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet (1997) 1.07

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet (1997) 1.01

Primate genome gain and loss: a bone dysplasia, muscular dystrophy, and bone cancer syndrome resulting from mutated retroviral-derived MTAP transcripts. Am J Hum Genet (2012) 0.93

The heart in limb girdle muscular dystrophy. Heart (1998) 0.93

Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins. Biochem Biophys Res Commun (2006) 0.91

Pacing for conduction disturbances in Steinert's disease: a new indication for biventricular ICD? Neth Heart J (2006) 0.81

Advances in basic and clinical research in laminopathies. Acta Myol (2013) 0.81

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. J Korean Med Sci (2005) 0.80

Cardioembolic stroke related to limb-girdle muscular dystrophy 1B. BMC Res Notes (2013) 0.77

Site of intimal rupture or erosion of thrombosed coronary atherosclerotic plaques is characterized by an inflammatory process irrespective of the dominant plaque morphology. Circulation (1994) 6.03

Left ventricular fibre architecture in man. Br Heart J (1981) 4.42

Polymyositis: an overdiagnosed entity. Neurology (2003) 4.36

Nomenclature and classification of congenital heart disease. Br Heart J (1979) 3.46

Elevated levels of oxidized low density lipoprotein show a positive relationship with the severity of acute coronary syndromes. Circulation (2001) 3.03

Anomalies associated with coarctation of aorta: particular reference to infancy. Circulation (1970) 2.95

Histologic changes in the normal aging aorta: implications for dissecting aortic aneurysm. Am J Cardiol (1977) 2.87

Reentry as a cause of ventricular tachycardia in patients with chronic ischemic heart disease: electrophysiologic and anatomic correlation. Circulation (1988) 2.86

Classification of ventricular septal defects. Br Heart J (1980) 2.79

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet (2000) 2.52

Anticipation in myotonic dystrophy: fact or fiction? Brain (1989) 2.41

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet (1995) 2.33

Functional and morphological organization of the rabbit sinus node. Circ Res (1980) 2.30

The conducting tissues in congenitally corrected transposition. Circulation (1974) 2.27

Relation of arterial geometry to luminal narrowing and histologic markers for plaque vulnerability: the remodeling paradox. J Am Coll Cardiol (1998) 2.27

Delayed cerebral thrombosis after initial good recovery from pneumococcal meningitis. Neurology (2009) 2.26

Sequential segmental analysis of congenital heart disease. Pediatr Cardiol (1984) 2.12

Congenitally corrected transposition of the great arteries: morphologic study of 32 cases. Am J Cardiol (1976) 2.08

Ventricular tachycardia in the infarcted, Langendorff-perfused human heart: role of the arrangement of surviving cardiac fibers. J Am Coll Cardiol (1990) 2.05

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet (1992) 2.04

Role of the tricuspid annulus and the eustachian valve/ridge on atrial flutter. Relevance to catheter ablation of the septal isthmus and a new technique for rapid identification of ablation success. Circulation (1996) 2.04

[Peer review in requests for subsidy]. Ned Tijdschr Geneeskd (1997) 2.02

Diagnostic investigation of patients with chronic polyneuropathy: evaluation of a clinical guideline. J Neurol Neurosurg Psychiatry (2001) 1.92

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology (2008) 1.86

Atherosclerotic plaque rupture--pathologic basis of plaque stability and instability. Cardiovasc Res (1999) 1.82

Atresia of the right atrioventricular orifice. Br Heart J (1977) 1.82

Remodeling after myocardial infarction in humans is not associated with interstitial fibrosis of noninfarcted myocardium. J Am Coll Cardiol (1997) 1.81

Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology (2007) 1.79

Dilated cardiomyopathy is associated with an increase in the type I/type III collagen ratio: a quantitative assessment. J Am Coll Cardiol (1995) 1.75

Atherosclerotic lesions in humans. In situ immunophenotypic analysis suggesting an immune mediated response. Lab Invest (1989) 1.74

Suicide in contemporary China: a review of China's distinctive suicide demographics in their sociocultural context. Harv Rev Psychiatry (2001) 1.71

Echocardiographic criteria for Ebstein's anomaly of tricuspid valve. Br Heart J (1980) 1.70

Vascular endothelial growth factor (VEGF) expression in human coronary atherosclerotic lesions: possible pathophysiological significance of VEGF in progression of atherosclerosis. Circulation (1998) 1.69

The genomic profile of human malignant glioma is altered early in primary cell culture and preserved in spheroids. Oncogene (2007) 1.69

Sudden unexpected death in young adults. Discrepancies between initiation of acute plaque complications and the onset of acute coronary death. Eur Heart J (2002) 1.68

Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord (1991) 1.68

Plasma and gamma-globulin infusion in chronic inflammatory polyneuropathy. J Neurol Sci (1985) 1.67

Adhesion molecules on the endothelium and mononuclear cells in human atherosclerotic lesions. Am J Pathol (1992) 1.66

Pregnancy complications and neonatal outcomes in women with eating disorders. Am J Psychiatry (2001) 1.62

Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord (2008) 1.60

"Sociosomatics": the contributions of anthropology to psychosomatic medicine. Psychosom Med (1998) 1.59

Cardiac tamponade. A study of 50 hearts. Eur J Cardiol (1975) 1.57

Neuropathological findings after continuous intrathecal administration of S(+)-ketamine for the management of neuropathic cancer pain. Pain (2005) 1.57

Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology (2000) 1.57

The IL-1beta system in epilepsy-associated malformations of cortical development. Neurobiol Dis (2006) 1.56

Neointimal tissue response at sites of coronary stenting in humans: macroscopic, histological, and immunohistochemical analyses. Circulation (1998) 1.56

Pathogenesis of dissecting aneurysm of aorta. Comparative histopathologic study of significance of medial changes. Am J Cardiol (1977) 1.54

Interleukin-15 expression in atherosclerotic plaques: an alternative pathway for T-cell activation in atherosclerosis? Arterioscler Thromb Vasc Biol (2001) 1.52

Left atrial myocardial extension onto pulmonary veins in humans: anatomic observations relevant for atrial arrhythmias. J Cardiovasc Electrophysiol (2000) 1.51

The postpolio syndrome: no evidence for poliovirus persistence. Ann Neurol (1992) 1.48

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet (1996) 1.47

Extracellular matrix of the human aortic media: an ultrastructural histochemical and immunohistochemical study of the adult aortic media. Anat Rec (2000) 1.47

Tetralogy of Fallot: a morphometric and geometric study. Am J Cardiol (1975) 1.47

The anatomical substrates of wolff-parkinson-white syndrome. A clinicopathologic correlation in seven patients. Circulation (1978) 1.47

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46

Morphogenesis of bulboventricular malformations. II. Observations on malformed hearts. Br Heart J (1974) 1.45

The pulmonary outflow tract in classically corrected transposition. J Thorac Cardiovasc Surg (1975) 1.44

Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral. Eur J Neurol (2013) 1.43

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. J Neurol Neurosurg Psychiatry (2013) 1.42

[Intravenously-administered immunoglobulins as first-choice agent in juvenile dermatomyositis]. Ned Tijdschr Geneeskd (1993) 1.42

Valve morphology in complete atrioventricular septal defect: variability relevant to operation. Ann Thorac Surg (1993) 1.41

Atrioventricular junctional tissue. Discrepancy between histological and electrophysiological characteristics. Circulation (1996) 1.41

Pathologic spectrum of dysplasia of the tricuspid valve. Features in common with Ebstein's malformation. Arch Pathol (1971) 1.40

Dysphagia in postpolio patients: a videofluorographic follow-up study. Dysphagia (1994) 1.40

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet (1996) 1.40

Ventricular preexcitation. A proposed nomenclature for its substrates. Eur J Cardiol (1975) 1.39

Mitral valve origin of pedunculated rhabdomyomas causing subaortic stenosis. Am J Cardiol (1991) 1.39

Rapid determination of the hypoxanthine increase in ischemic exercise tests. Clin Chem (1988) 1.38

[Cerebrospinal fluid diagnosis using polymerase chain reaction]. Ned Tijdschr Geneeskd (1996) 1.38

Muscular changes in the guinea pig caused by chronic ascorbic acid deficiency. J Neurol Sci (1991) 1.37

Morphologic spectrum of Ebstein's anomaly of the heart: a review. Mayo Clin Proc (1979) 1.37

Sudden death in a youth. A case of quadricuspid aortic valve with isolation of origin of left coronary artery. Br Heart J (1981) 1.37

Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Epilepsy Res (2007) 1.36

How to determine atrial situs? Considerations initiated by 3 cases of absent spleen with a discordant anatomy between bronchi and atria. Br Heart J (1979) 1.33

What should we call the 'crista'? Br Heart J (1977) 1.33

Upregulation of metabotropic glutamate receptor subtype mGluR3 and mGluR5 in reactive astrocytes in a rat model of mesial temporal lobe epilepsy. Eur J Neurosci (2000) 1.32

Anatomically corrected malposition of great arteries. Br Heart J (1975) 1.32

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord (1999) 1.32

Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31

Redefining the clinical phenotypes of non-dystrophic myotonic syndromes. J Neurol Neurosurg Psychiatry (2009) 1.29

Altered expression patterns of group I and II metabotropic glutamate receptors in multiple sclerosis. Brain (2003) 1.29

Straddling and overriding atrioventricular valves: morphology and classification. Am J Cardiol (1979) 1.29

Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy: a double blind, placebo controlled study. J Neurol Neurosurg Psychiatry (1993) 1.28

Leucocyte recruitment in rupture prone regions of lipid-rich plaques: a prominent role for neovascularization? Cardiovasc Res (1999) 1.28

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet (1997) 1.26

Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology (2005) 1.26

Induction of neonatal sodium channel II and III alpha-isoform mRNAs in neurons and microglia after status epilepticus in the rat hippocampus. Eur J Neurosci (2001) 1.25

Complement activation in experimental and human temporal lobe epilepsy. Neurobiol Dis (2007) 1.25

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain (1999) 1.24

Intravenous immunoglobulin treatment in patients with chronic inflammatory demyelinating polyneuropathy. Clinical and laboratory characteristics associated with improvement. Arch Neurol (1991) 1.24

Myocardial disarray. A critical review. Br Heart J (1982) 1.24

Cytokine secretion profiles of cloned T cells from human aortic atherosclerotic plaques. J Pathol (1999) 1.24

Adventitial infiltrates associated with advanced atherosclerotic plaques: structural organization suggests generation of local humoral immune responses. J Pathol (2001) 1.24

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology (2002) 1.23

Long-term outcome in polymyositis and dermatomyositis. Ann Rheum Dis (2006) 1.22

Sporadic lower motor neuron disease with adult onset: classification of subtypes. Brain (2003) 1.22

A combined morphological and electrophysiological study of the atrioventricular node of the rabbit heart. Circ Res (1974) 1.21

Reversing the direction of paced ventricular and atrial wavefronts reveals an oblique course in accessory AV pathways and improves localization for catheter ablation. Circulation (2001) 1.21

Toll-like receptor signaling in amyotrophic lateral sclerosis spinal cord tissue. Neuroscience (2011) 1.21

Atrioventricular septal defects: What's in a name? J Thorac Cardiovasc Surg (1982) 1.20