Disease: Emery-Dreifuss muscular dystrophy- dominant type
- "Laminopathies": a wide spectrum of human diseases
- A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block
- A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy
- Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy
- Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
- An EDMD mutation in C. elegans lamin blocks muscle-specific gene relocation and compromises muscle integrity
- Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family
- Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
- Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement
- Both emerin and lamin C depend on lamin A for localization at the nuclear envelope
- Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies
- Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B
- Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy
- Cardiac effects of the c.1583 CG LMNA mutation in two families with Emery-Dreifuss muscular dystrophy
- Cardiologic findings in Hauptmann-Thannhauser muscular dystrophy (autosomal dominant Emery-Dreifuss muscular dystrophy)
- Characterization of unfolding mechanism of human lamin A Ig fold by single-molecule force spectroscopy-implications in EDMD
- Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
- Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy
- Components of the nuclear envelope and their role in human disease
- Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy
- Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
- Direct interaction between emerin and lamin A
- Disorders of laminins in diseases of myocardial and skeletal muscles
- DNase I hypersensitive sites and transcriptional activation of the lamin A/C gene
- Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
- Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy
- Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
- Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy
- Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells
- Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane
- Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation
- Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects
- Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report
- FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation
- Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy
- Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy
- Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family
- Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans
- Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures
- 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
- Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy
- Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B
- Identification of mutations on the <em>EMD</em> and <em>EYA4</em> genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report
- Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report
- Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene
- Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts
- Interaction between emerin and nuclear lamins
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lamin A Ser404 is a nuclear target of Akt phosphorylation in C2C12 cells
- Lamin A/C truncation in dilated cardiomyopathy with conduction disease
- Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy
- Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth
- Laminopathies in Russian families
- Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy
- Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
- LINC complex alterations in DMD and EDMD/CMT fibroblasts
- LMNA-associated myopathies: the Italian experience in a large cohort of patients
- LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability
- LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
- LUMA interacts with emerin and influences its distribution at the inner nuclear membrane
- Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy
- Monoclonal antibodies specific for disease-associated point-mutants: lamin A/C R453W and R482W
- Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
- Mouse models of nesprin-related diseases
- Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene
- Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
- Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
- Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
- Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
- Mutations in the LMNA gene encoding lamin A/C
- Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B)
- Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
- Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease
- Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy
- Novel LMNA mutation presenting as severe congenital muscular dystrophy
- Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis
- Nuclear architecture remodelling in envelopathies
- Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B
- Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy
- Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
- Nuclear envelope proteins and associated diseases
- Nuclear envelope proteins and neuromuscular diseases
- Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
- Nuclear proteins and cell death in inherited neuromuscular disease
- Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)
- Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy
- Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication
- Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
- Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers
- Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro
- Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy
- Single Myofiber Isolation and Culture from a Murine Model of Emery-Dreifuss Muscular Dystrophy in Early Post-Natal Development
- Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
- The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene
- The laminopathy saga
- The nuclear envelope in muscular dystrophy and cardiovascular diseases
- The nuclear muscular dystrophies
- The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin
- The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy
- Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene