Last Updated: 09/26/2026
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Found 40 publications
Reclassification of intragenic DMD gene duplications by optical genome mapping resolves uncertainty and improves clinical management.
Journal: Neuromuscular disorders : NMD
Published: October 13, 2025
Muscle Channelopathies and Rhabdomyolysis.
Journal: Continuum (Minneapolis, Minn.)
Published: October 02, 2025
Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.
Journal: International journal of molecular sciences
Published: October 01, 2025
Clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL study.
Journal: Neuromuscular disorders : NMD
Published: September 05, 2025
Lymphocyte Activation Gene 3 in Inclusion Body Myositis: A Novel Therapeutic Biomarker?
Journal: Muscle & nerve
Published: July 03, 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
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.
Journal: Journal of neurology
Published: February 05, 2025
Advances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders.
Journal: Seminars in respiratory and critical care medicine
Published: December 21, 2024
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
Journal: Orphanet journal of rare diseases
Published: December 10, 2024
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Journal: Neurology. Genetics
Published: November 26, 2024
Telemedicine for the Care of Patients with Idiopathic Inflammatory Myopathies: Experience, Insights and Future Directions from the International Myositis Assessment and Clinical Studies Telemedicine Scientific Interest Group.
Journal: Current rheumatology reports
Published: August 02, 2024
Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.
Journal: Muscle & nerve
Published: June 27, 2024
Last Updated: 09/26/2026