X-Linked Dominant Scapuloperoneal Myopathy Latest Advances

Find the Latest Research About X-Linked Dominant Scapuloperoneal Myopathy

Last Updated: 04/28/2026

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Found 536 publications

X-linked Emery-Dreifuss muscular dystrophy caused by a novel FHL1 mutation: A case report.

X-linked Emery-Dreifuss muscular dystrophy caused by a novel FHL1 mutation: A case report.

Journal: The Journal of international medical research
Published: March 17, 2026

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

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.

Development of Emerin mRNA Lipid Nanoparticles to Rescue Myogenic Differentiation.

Journal: International journal of molecular sciences
Published: June 11, 2025

Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery-Dreifuss Muscular Dystrophy Caused by EMD Variants.

Imaging Features of Skeletal Muscle and Their Correlation With Clinical Findings in Emery-Dreifuss Muscular Dystrophy Caused by EMD Variants.

Journal: Muscle & nerve
Published: June 05, 2025

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

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.

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.

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

iPSC-derived cardiomyocytes and engineered heart tissues reveal suppressed JAK2/STAT3 signaling in LMNA-related emery-dreifuss muscular dystrophy.

iPSC-derived cardiomyocytes and engineered heart tissues reveal suppressed JAK2/STAT3 signaling in LMNA-related emery-dreifuss muscular dystrophy.

Journal: Redox biology
Published: March 06, 2025

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.

Journal: Journal of clinical neuromuscular disease
Published: February 26, 2025

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods.

Journal: Neuropathology and applied neurobiology
Published: February 24, 2025

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.

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.

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

Journal: International journal of molecular sciences
Published: December 06, 2024
Showing 1-12 of 536

Last Updated: 04/28/2026