Published in Hum Genet on November 10, 2010
The lamin protein family. Genome Biol (2011) 1.85
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord (2014) 1.42
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. PLoS Genet (2014) 1.13
Modifying muscular dystrophy through transforming growth factor-β. FEBS J (2013) 0.95
Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features. Cells (2016) 0.85
Genetic Modifiers for Neuromuscular Diseases. J Neuromuscul Dis (2015) 0.77
PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet (1998) 23.25
Markov chain Monte Carlo segregation and linkage analysis for oligogenic models. Am J Hum Genet (1997) 10.86
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
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet (1994) 4.11
Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans. Nat Genet (1999) 3.95
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (2003) 3.59
"Laminopathies": a wide spectrum of human diseases. Exp Cell Res (2007) 3.46
Modifier genes in mice and humans. Nat Rev Genet (2001) 3.31
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
MCMC segregation and linkage analysis. Genet Epidemiol (1997) 3.11
Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest (2004) 2.67
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
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation (2000) 2.32
The sickle-cell and haemoglobin C genes in some African populations. Ann Hum Genet (1956) 2.12
Multipoint linkage analysis with many multiallelic or dense diallelic markers: Markov chain-Monte Carlo provides practical approaches for genome scans on general pedigrees. Am J Hum Genet (2006) 1.95
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol (2000) 1.84
Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. Am J Hum Genet (1999) 1.72
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology (2007) 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
Evidence for balancing selection from nucleotide sequence analyses of human G6PD. Am J Hum Genet (2002) 1.58
Linkage analysis of quantitative traits for obesity, diabetes, hypertension, and dyslipidemia on the island of Kosrae, Federated States of Micronesia. Proc Natl Acad Sci U S A (2006) 1.48
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
A score for Bayesian genome screening. Genet Epidemiol (2003) 1.33
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A (2008) 1.30
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Mol Genet (2007) 1.23
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain (2006) 1.23
Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord (2000) 1.19
Identifying modifier genes of monogenic disease: strategies and difficulties. Hum Genet (2008) 1.13
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol (2004) 1.01
Empirical significance values for linkage analysis: trait simulation using posterior model distributions from MCMC oligogenic segregation analysis. Genet Epidemiol (2008) 0.99
A genomewide assessment of inbreeding depression: gene number, function, and mode of action. Conserv Biol (2009) 0.99
Joint oligogenic segregation and linkage analysis using bayesian Markov chain Monte Carlo methods. Mol Biotechnol (2004) 0.97
Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice. Circulation (2008) 0.96
The human desmin locus: gene organization and LCR-mediated transcriptional control. Genomics (2006) 0.95
Genome scan for quantitative trait loci influencing HDL levels: evidence for multilocus inheritance in familial combined hyperlipidemia. Hum Genet (2005) 0.92
Overdominance in the human genome and olfactory receptor activity. Mol Biol Evol (2008) 0.91
Ascertainment correction for Markov chain Monte Carlo segregation and linkage analysis of a quantitative trait. Genet Epidemiol (2007) 0.91
Monte Carlo Markov chain methods for genome screening. Genet Epidemiol (1999) 0.91
Genome scans for Q1 and Q2 on general population replicates using Loki. Genet Epidemiol (2001) 0.89
Linkage and association analyses identify a candidate region for apoB level on chromosome 4q32.3 in FCHL families. Hum Genet (2010) 0.84
Identifying modifier loci in existing genome scan data. Ann Hum Genet (2008) 0.82
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord (2008) 0.81
Joint linkage and segregation analysis under multiallelic trait inheritance: simplifying interpretations for complex traits. Genet Epidemiol (2010) 0.80
Age-of-onset of hypertension vs. a single measurement of systolic blood pressure in a combined linkage and segregation analysis. BMC Genet (2003) 0.78
New real-time PCR assay for rapid detection of methicillin-resistant Staphylococcus aureus directly from specimens containing a mixture of staphylococci. J Clin Microbiol (2004) 6.06
Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev (2006) 3.30
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
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children. Eur Heart J (1998) 2.20
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology (2011) 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
Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation (1998) 2.04
Is lipoprotein(a) an independent risk factor for ischemic heart disease in men? The Quebec Cardiovascular Study. J Am Coll Cardiol (1998) 1.88
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 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
Generalized anxiety disorder: a preliminary test of a conceptual model. Behav Res Ther (1998) 1.76
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve (2004) 1.73
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat (2010) 1.67
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology (2007) 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
Efficacy of a cognitive-behavioral treatment for generalized anxiety disorder: evaluation in a controlled clinical trial. J Consult Clin Psychol (2000) 1.55
Clinical predictive factors of subthalamic stimulation in Parkinson's disease. Brain (2002) 1.38
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet (2003) 1.37
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet (2010) 1.33
Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med (Berl) (1998) 1.27
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain (2006) 1.23
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology (2002) 1.23
Zidovudine myopathy: a distinctive disorder associated with mitochondrial dysfunction. Ann Neurol (1991) 1.19
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet (2004) 1.19
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy. Circulation (1996) 1.18
Parkinson's disease with camptocormia. J Neurol Neurosurg Psychiatry (2006) 1.14
Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet (2005) 1.12
Cognitive-behavioral treatment of obsessive thoughts: a controlled study. J Consult Clin Psychol (1997) 1.11
Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation (1997) 1.10
Vibration and noise in pediatric emergency transport vehicles: a potential cause of morbidity? Aviat Space Environ Med (1995) 1.09
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
Quantitative founder-effect analysis of French Canadian families identifies specific loci contributing to metabolic phenotypes of hypertension. Am J Hum Genet (2005) 1.07
Asphyxial games or "the choking game": a potentially fatal risk behaviour. Inj Prev (2009) 1.07
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology (2005) 1.01
Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF). J Neurol Sci (1991) 0.99
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet (2008) 0.99
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. J Med Genet (2008) 0.98
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord (2005) 0.98
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology (2005) 0.97
[The Beck Anxiety Inventory. Psychometric properties of a French translation]. Encephale (1994) 0.96
The heterogeneous levels of linkage disequilibrium in white spruce genes and comparative analysis with other conifers. Heredity (Edinb) (2011) 0.96
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet (1999) 0.95
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol (2010) 0.95
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet (2007) 0.95
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. Hum Mutat (1999) 0.94
Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart (2004) 0.94
Candidate gene studies in focal dystonia. Neurology (2003) 0.92
Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy. Eur Heart J (1998) 0.91
A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism. J Thromb Haemost (2010) 0.91
Penetrance of familial hypertrophic cardiomyopathy. Genet Couns (1997) 0.91
Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. Neurology (2004) 0.90
Back pain and spinal changes in microgravity. Orthop Clin North Am (1991) 0.89
Does clinical rapid eye movement behavior disorder predict worse outcomes in Parkinson's disease? J Neurol (2010) 0.89
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics (2002) 0.89
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol (2001) 0.89
Self-report of obsessions and worry. Behav Res Ther (1994) 0.88
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve (2005) 0.87
Risk of avascular necrosis following short term megadose methylprednisolone treatment. Spinal Cord (1998) 0.86
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromuscul Disord (2010) 0.86
The importance of connections: joining components of the Hutterite pedigree. Genet Epidemiol (2001) 0.86
Baclofen eliminates cluster lung breathing of the tadpole brainstem, in vitro. Neurosci Lett (2000) 0.85
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet (2004) 0.85
Heart involvement in lamin A/C related diseases. Arch Mal Coeur Vaiss (2006) 0.84
COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization. C R Acad Sci III (2001) 0.84
Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. J Pediatr (1993) 0.84
Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations. Neuropediatrics (1992) 0.83
A weight of evidence approach for the assessment of the ototoxic potential of industrial chemicals. Toxicol Ind Health (2011) 0.83
Dendritic cells prevent radiation-induced thymic lymphoma. Leukemia (1996) 0.82
Diurnal changes in the profile shape and range of motion of the back. Spine (Phila Pa 1976) (1992) 0.82
Serum bone GLA-protein in growth hormone deficient children. J Bone Miner Res (1986) 0.82
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord (2001) 0.82
Effects of propofol on cerebral oxygenation during cardiopulmonary bypass in children. Can J Anaesth (2000) 0.82
Cardiac Myosin-binding protein C and hypertrophic cardiomyopathy. Trends Cardiovasc Med (1998) 0.80
Laryngeal abnormalities are frequent in the 22q11 deletion syndrome. Int J Pediatr Otorhinolaryngol (2011) 0.80
First description of germline mosaicism in familial hypertrophic cardiomyopathy. J Med Genet (2000) 0.79
Ethyl benzene should be considered ototoxic at occupationally relevant exposure concentrations. Toxicol Ind Health (2008) 0.79
Platelet reactions and immune processes. VI. The effect of immunoglobulins and other plasma proteins on platelet surface interactions. Thromb Diath Haemorrh (1971) 0.79
HLA DRB1, DMA, and DMB gene polymorphisms in rheumatoid arthritis. Hum Immunol (1999) 0.79
Catalytic and non-catalytic forms of the neurotrophin receptor xTrkB mRNA are expressed in a pseudo-segmental manner within the early Xenopus central nervous system. Int J Dev Biol (1996) 0.79
Laminopathies affecting skeletal and cardiac muscles: clinical and pathophysiological aspects. Acta Myol (2005) 0.78
Purinergic modulation of Na(+),K(+),Cl(-) cotransport and MAP kinases is limited to C11-MDCK cells resembling intercalated cells from collecting ducts. J Membr Biol (1999) 0.78
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. Rev Neurol (Paris) (2013) 0.78
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. Clin Genet (2007) 0.78
GLI3 is rarely implicated in OFD syndromes with midline abnormalities. Hum Mutat (2011) 0.78
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis. Neuromuscul Disord (2002) 0.77
A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1. Am J Med Genet B Neuropsychiatr Genet (2013) 0.77
Strategies used with intrusive thoughts: a comparison of OCD patients with anxious and community controls. J Abnorm Psychol (2000) 0.77
Cognitive intrusions in a non-clinical population. I. Response style, subjective experience, and appraisal. Behav Res Ther (1991) 0.77
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. Rev Neurol (Paris) (2005) 0.76
Anemia in the period immediately following renal transplantation. Transplant Proc (2007) 0.76
Ototoxicity of trichloroethylene in concentrations relevant for the working environment. Hum Exp Toxicol (2008) 0.76
Cognitive intrusions in a non-clinical population. II. Associations with depressive, anxious, and compulsive symptoms. Behav Res Ther (1992) 0.75
Health-related intrusive thoughts. J Psychosom Res (1994) 0.75
The COX8 gene is not the disease gene of the CMH4 locus in familial hypertrophic cardiomyopathy. J Med Genet (1995) 0.75