Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 638 publications

Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis controlling cytoplasmic macromolecular crowding.

Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis controlling cytoplasmic macromolecular crowding.

Journal: bioRxiv : the preprint server for biology
Published: October 03, 2025

A-type lamins anchor emerin at the inner nuclear membrane via two independent binding sites.

A-type lamins anchor emerin at the inner nuclear membrane via two independent binding sites.

Journal: bioRxiv : the preprint server for biology
Published: September 15, 2025

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

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.

Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery-Dreifuss Muscular Dystrophy.

Journal: The Indian journal of radiology & imaging
Published: June 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

Cargo recognition of Nesprin-2 by the dynein adapter Bicaudal D2 for a nuclear positioning pathway that is important for neuronal migration.

Cargo recognition of Nesprin-2 by the dynein adapter Bicaudal D2 for a nuclear positioning pathway that is important for neuronal migration.

Journal: bioRxiv : the preprint server for biology
Published: June 06, 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

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies.

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies.

Journal: Biomedicines
Published: January 29, 2025

Lessons learned from a muscle study in nail-patella syndrome.

Lessons learned from a muscle study in nail-patella syndrome.

Journal: Orphanet journal of rare diseases
Published: December 21, 2024
Showing 1-12 of 638

Last Updated: 10/31/2025