Published in Ann Neurol on August 01, 2000
"Laminopathies": a wide spectrum of human diseases. Exp Cell Res (2007) 3.46
A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. J Cell Biol (2012) 3.32
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A (2004) 2.19
Diseases of the nuclear envelope. Cold Spring Harb Perspect Biol (2010) 2.12
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet (2008) 1.83
MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans. Proc Natl Acad Sci U S A (2003) 1.73
LAP2 binds to BAF.DNA complexes: requirement for the LEM domain and modulation by variable regions. EMBO J (2001) 1.53
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord (2014) 1.42
Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. J Clin Invest (2008) 1.40
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet (2003) 1.37
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. Mol Cell Biol (2004) 1.30
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. Hum Mol Genet (2013) 1.17
Nuclear positioning in muscle development and disease. Front Physiol (2013) 1.14
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. PLoS Genet (2014) 1.13
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet (2005) 1.12
Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. Virchows Arch (2003) 1.06
Inner nuclear membrane proteins: impact on human disease. Chromosoma (2012) 1.05
Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy. Proc Natl Acad Sci U S A (2005) 1.04
Molecular genetic analysis of the nested Drosophila melanogaster lamin C gene. Genetics (2005) 1.01
LMNA cardiomyopathy: cell biology and genetics meet clinical medicine. Dis Model Mech (2011) 1.01
Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells. Biochim Biophys Acta (2008) 0.99
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. Clin Genet (2008) 0.98
Modifying muscular dystrophy through transforming growth factor-β. FEBS J (2013) 0.95
Mice with a targeted deletion of the tetranectin gene exhibit a spinal deformity. Mol Cell Biol (2001) 0.94
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart (2004) 0.93
Characterization of lamin mutation phenotypes in Drosophila and comparison to human laminopathies. PLoS One (2007) 0.89
Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. Diabetologia (2004) 0.87
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Neurogenetics (2006) 0.86
Systematic identification of pathological lamin A interactors. Mol Biol Cell (2014) 0.86
The nuclear envelope: an intriguing focal point for neurogenetic disease. Neurotherapeutics (2014) 0.86
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features. Cells (2016) 0.85
Identification of a novel muscle A-type lamin-interacting protein (MLIP). J Biol Chem (2011) 0.84
Depletion of extracellular signal-regulated kinase 1 in mice with cardiomyopathy caused by lamin A/C gene mutation partially prevents pathology before isoenzyme activation. Hum Mol Genet (2013) 0.84
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet (2010) 0.83
Structure and dynamics of human vimentin intermediate filament dimer and tetramer in explicit and implicit solvent models. J Mol Model (2010) 0.83
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. Appl Clin Genet (2016) 0.82
Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. Skelet Muscle (2013) 0.82
Emerin in health and disease. Semin Cell Dev Biol (2013) 0.81
Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice. PLoS One (2012) 0.81
Mitogen-activated protein kinase kinase 1/2 inhibition and angiotensin II converting inhibition in mice with cardiomyopathy caused by lamin A/C gene mutation. Biochem Biophys Res Commun (2014) 0.80
Depletion of lamina-associated polypeptide 1 from cardiomyocytes causes cardiac dysfunction in mice. Nucleus (2014) 0.80
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
Whole-exome sequencing to identify a novel LMNA gene mutation associated with inherited cardiac conduction disease. PLoS One (2013) 0.79
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B. BMC Res Notes (2013) 0.77
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. PLoS One (2015) 0.77
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. Biomed Res Int (2015) 0.76
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. Clin Case Rep (2016) 0.76
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs. Nucleus (2017) 0.75
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. Neuromuscul Disord (2016) 0.75
Genetic Variations Leading to Familial Dilated Cardiomyopathy. Mol Cells (2016) 0.75
Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. Mol Med Rep (2015) 0.75
The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells. Chromosoma (2016) 0.75
New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur J Cancer (2009) 77.71
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47
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
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature (1993) 4.87
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet (1998) 4.75
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet (1998) 4.72
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues. Lancet (1999) 4.20
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet (1994) 4.11
Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region. Nucleic Acids Res (1986) 3.86
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet (1997) 3.79
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature (1990) 3.77
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet (1998) 3.76
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62
A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet (1996) 3.58
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet (2001) 3.50
Exaggerated anesthetic requirements in the preferentially anesthetized brain. Anesthesiology (1993) 3.37
Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet (1998) 3.30
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05
Myosin isoenzyme redistribution in chronic heart overload. Nature (1979) 2.89
Three myosin heavy-chain isozymes appear sequentially in rat muscle development. Nature (1981) 2.88
Phase 3 randomized trial on larynx preservation comparing sequential vs alternating chemotherapy and radiotherapy. J Natl Cancer Inst (2009) 2.83
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet (2005) 2.80
The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway. J Clin Invest (1999) 2.77
Myoblast transplantation for heart failure. Lancet (2001) 2.71
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet (1997) 2.68
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. EMBO J (1986) 2.64
Quantitative changes in T helper or T suppressor/cytotoxic lymphocyte subsets that distinguish acquired immune deficiency syndrome from other immune subset disorders. Am J Med (1984) 2.60
Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology (2008) 2.57
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology (2012) 2.56
Prognostic value of cardiac metaiodobenzylguanidine imaging in patients with heart failure. J Nucl Med (1992) 2.56
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology (2002) 2.53
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
Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet (1995) 2.52
Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax (1998) 2.50
Relation between sexual practices and T-cell subsets in homosexually active men. Lancet (1983) 2.46
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet (2001) 2.45
Myosin heavy chain messenger RNA and protein isoform transitions during cardiac hypertrophy. Interaction between hemodynamic and thyroid hormone-induced signals. J Clin Invest (1987) 2.37
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation (2000) 2.32
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Atrial natriuretic factor elicits an endothelium-independent relaxation and activates particulate guanylate cyclase in vascular smooth muscle. Proc Natl Acad Sci U S A (1984) 2.26
Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J (1999) 2.24
Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III (1994) 2.22
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children. Eur Heart J (1998) 2.20
Myosin isoenzyme changes in several models of rat cardiac hypertrophy. Circ Res (1981) 2.20
When is referral of Heaf test positive schoolchildren worth while? Prospective study. BMJ (1996) 2.20
Cervical dystonia: clinical findings and associated movement disorders. Neurology (1991) 2.16
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord (2003) 2.12
Low doses of ethanol activate dopaminergic neurons in the ventral tegmental area. Brain Res (1985) 2.11
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci (2001) 2.05
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet (1999) 2.04
Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J (2005) 2.04
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation (1998) 2.04
Oxidative stress in patients with Friedreich ataxia. Neurology (2000) 2.03
Both emerin and lamin C depend on lamin A for localization at the nuclear envelope. J Cell Sci (2001) 2.01
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet (2001) 2.00
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med (1999) 1.94
Altered sarcoplasmic reticulum Ca2(+)-ATPase gene expression in the human ventricle during end-stage heart failure. J Clin Invest (1990) 1.94
Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res (1998) 1.92
Alpha-skeletal muscle actin mRNA's accumulate in hypertrophied adult rat hearts. Circ Res (1986) 1.90
Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry (2000) 1.87
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet (2002) 1.84
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science (1991) 1.82
The central nervous system and carbon monoxide poisoning. II. Anatomical study of brain lesions following intoxication with carbon monixide (22 cases). Prog Brain Res (1967) 1.80
Contractile protein isozymes in muscle development: identification of an embryonic form of myosin heavy chain. Proc Natl Acad Sci U S A (1979) 1.80
EORTC elderly task force position paper: approach to the older cancer patient. Eur J Cancer (2010) 1.80
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80
Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes. Eur Heart J (1998) 1.79
Myosin isoenzymic distribution correlates with speed of myocardial contraction. J Mol Cell Cardiol (1981) 1.79
Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation (1999) 1.78
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet (2005) 1.78
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology (1998) 1.76
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation (1997) 1.76