Disease: Emery-Dreifuss muscular dystrophy- X-linked
- A 49-year-old man with contractures, weakness, and cardiac arrhythmia
- A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy
- A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture
- A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes
- A Novel Mutation Of The <em>EMD</em> Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death
- A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology
- Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy
- Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked 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
- An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress
- An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation
- Arrhythmia follow-up of children and adolescents with neuromuscular diseases
- Attenuation of Wnt/β-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin
- Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy
- Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction
- Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series
- Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice
- Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children
- Christianson syndrome in a patient with an interstitial Xq26.3 deletion
- Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy
- Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A
- Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A
- Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models
- Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy
- Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype
- Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1
- Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy
- Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes
- Emerin interacts with histone methyltransferases to regulate repressive chromatin at the nuclear periphery
- Emerin self-assembly and nucleoskeletal coupling regulate nuclear envelope mechanics against stress
- Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane
- Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure
- Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies
- Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
- Emery-Dreifuss muscular dystrophy: case report
- Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy
- Essential role for Bclaf1 in lung development and immune system function
- Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin
- Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy
- Expanding the Clinical Phenotype of Emerinopathies: Atrial Standstill and Left Ventricular Noncompaction
- FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation
- Fhl1 W122S causes loss of protein function and late-onset mild myopathy
- FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy
- FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy
- Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features
- Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy
- Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family
- Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network
- Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy
- Hereditary muscular dystrophies and the heart
- Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation
- Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation
- 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
- Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology
- Impact commentaries. Unusual type of benign X linked muscular dystrophy
- Investigating the pathology of Emery-Dreifuss muscular dystrophy
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance
- LINC complex alterations in DMD and EDMD/CMT fibroblasts
- Lmo7 is dispensable for skeletal muscle and cardiac function
- Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors
- Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients
- Molecular signatures of Emery-Dreifuss muscular dystrophy
- Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion
- Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy
- Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties
- Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
- Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture
- Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin
- Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot
- Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report
- Nuclear architecture remodelling in envelopathies
- Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation?
- Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy
- Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation
- Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
- Reducing body myopathy and other FHL1-related muscular disorders
- Semaphorin 3A promotes activation of Pax7, Myf5, and MyoD through inhibition of emerin expression in activated satellite cells
- Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene
- Successful surgical repair for Emery-Dreifuss muscular dystrophy valvular disease with long-term follow-up
- Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review
- Targeted next-generation sequencing identified a known <em>EMD</em> mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
- Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
- The emerin-binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions
- Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy
- Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy
- Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases
- Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1
- Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case
- Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
- X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1
- X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
- X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions
- X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
- X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation
- X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene