Published in Cells on August 11, 2016
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. BMC Res Notes (2017) 0.75
Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans. Nucleus (2016) 0.75
Muscle developmental defects in heterogeneous nuclear Ribonucleoprotein A1 knockout mice. Open Biol (2017) 0.75
Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation. Endocrinol Diabetes Metab Case Rep (2017) 0.75
The nuclear lamina comes of age. Nat Rev Mol Cell Biol (2005) 6.00
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
Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med (2005) 5.01
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem (1993) 3.70
"Laminopathies": a wide spectrum of human diseases. Exp Cell Res (2007) 3.46
The A- and B-type nuclear lamin networks: microdomains involved in chromatin organization and transcription. Genes Dev (2008) 3.23
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) (2004) 2.81
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
Nuclear lamins. Cold Spring Harb Perspect Biol (2010) 2.22
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet (2002) 2.20
Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med (2006) 2.16
Rapamycin reverses elevated mTORC1 signaling in lamin A/C-deficient mice, rescues cardiac and skeletal muscle function, and extends survival. Sci Transl Med (2012) 1.98
Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody. Proc Natl Acad Sci U S A (2006) 1.97
Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol (2008) 1.97
Nuclear lamins and laminopathies. J Pathol (2011) 1.89
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J Clin Invest (2007) 1.87
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
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Proteins that bind A-type lamins: integrating isolated clues. J Cell Sci (2004) 1.79
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. Kardiol Pol (2012) 1.70
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
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord (2014) 1.40
Prenylated prelamin A interacts with Narf, a novel nuclear protein. J Biol Chem (1999) 1.37
Lamin A/C deficiency as a cause of familial dilated cardiomyopathy. Curr Opin Cardiol (2009) 1.33
Lamins: nuclear intermediate filament proteins with fundamental functions in nuclear mechanics and genome regulation. Annu Rev Biochem (2015) 1.32
Broken nuclei--lamins, nuclear mechanics, and disease. Trends Cell Biol (2013) 1.25
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain (2006) 1.23
Lamins at the crossroads of mechanosignaling. Genes Dev (2015) 1.23
Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference. Hum Genet (2005) 1.22
Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation (2010) 1.21
Temsirolimus activates autophagy and ameliorates cardiomyopathy caused by lamin A/C gene mutation. Sci Transl Med (2012) 1.19
Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord (2000) 1.19
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. Hum Mol Genet (2013) 1.17
De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol (2008) 1.17
Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans (2011) 1.16
Pre-Lamin A processing is linked to heterochromatin organization. J Cell Biochem (2007) 1.14
Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle. Cell Death Differ (2011) 1.09
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke (2003) 1.05
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord (2003) 1.04
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med (2002) 1.02
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology (2005) 1.01
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
'State-of-the-heart' of cardiac laminopathies. Curr Opin Cardiol (2013) 1.00
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet (2013) 1.00
Heart-hand syndrome of Slovenian type: a new kind of laminopathy. J Med Genet (2008) 0.98
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? Clin Genet (2005) 0.97
Partners and post-translational modifications of nuclear lamins. Chromosoma (2013) 0.97
Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies. Nucleus (2014) 0.96
Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord (2011) 0.95
Nuclear membrane diversity: underlying tissue-specific pathologies in disease? Curr Opin Cell Biol (2015) 0.93
Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes. J Cell Biol (2015) 0.92
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord (2003) 0.91
Lamins: the structure and protein complexes. Curr Opin Cell Biol (2014) 0.89
Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol (2013) 0.89
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology (2012) 0.87
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. Eur J Heart Fail (2012) 0.87
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Muscle Nerve (2010) 0.87
Reactivation of autophagy ameliorates LMNA cardiomyopathy. Autophagy (2012) 0.86
The nuclear muscular dystrophies. Semin Pediatr Neurol (2002) 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
Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations. Muscle Nerve (2013) 0.83
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. Hum Genet (2010) 0.83
Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations. Cardiovasc Res (2013) 0.83
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
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve (2012) 0.82
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. Muscle Nerve (2007) 0.81
Nuclear envelope and striated muscle diseases. Curr Opin Cell Biol (2014) 0.81
Border Safety: Quality Control at the Nuclear Envelope. Trends Cell Biol (2015) 0.80
Ameliorating pathogenesis by removing an exon containing a missense mutation: a potential exon-skipping therapy for laminopathies. Gene Ther (2015) 0.80
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. Neuromuscul Disord (2015) 0.80
Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo. PLoS One (2012) 0.79
LMNA-associated myopathies: the Italian experience in a large cohort of patients. Neurology (2014) 0.79
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy. Muscle Nerve (2016) 0.79
A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement. Neuromuscul Disord (2012) 0.79
Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain (2003) 0.78
Striated muscle laminopathies. Semin Cell Dev Biol (2014) 0.78
Myoblasts and embryonic stem cells differentially engraft in a mouse model of genetic dilated cardiomyopathy. Mol Ther (2013) 0.77
Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations. Methods Enzymol (2015) 0.76