X-Linked Dominant Scapuloperoneal Myopathy Latest Advances

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Journal: Cells

Published: July 18, 2025

Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation.

Journal: International journal of molecular sciences

Published: June 11, 2025

New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.

Journal: Journal of child neurology

Published: May 19, 2025

De novo LMNA mutation in a migrant child presenting with respiratory failure.

Journal: BMJ case reports

Published: April 22, 2025

Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: March 11, 2025

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy.

Journal: Journal of clinical neuromuscular disease

Published: February 26, 2025

Successful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.

Journal: Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing

Published: December 16, 2024

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

Journal: International journal of molecular sciences

Published: December 06, 2024

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

Journal: European journal of human genetics : EJHG

Published: September 06, 2024

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: August 05, 2024

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

Journal: Genetics

Published: August 01, 2024

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Journal: Journal of neuromuscular diseases

Published: July 26, 2024

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Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation.

Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation.

New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.

New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.

De novo LMNA mutation in a migrant child presenting with respiratory failure.

De novo LMNA mutation in a migrant child presenting with respiratory failure.

Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies.

Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies.

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy.

RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy.

Successful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.

Successful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.