Last Updated: 09/26/2026
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Found 308 publications
Beyond dystrophin: cell therapy for Duchenne muscular dystrophy.
Journal: Lancet (London, England)
Published: August 02, 2026
Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with COL6A3 c.7447A>G.
Journal: Journal of neuromuscular diseases
Published: July 28, 2026
289th ENMC international workshop: assessing and managing emerging AAV related toxicities after gene therapy for neuromuscular disorders, 26 - 28 September 2025, Hoofddorp, The Netherlands.
Journal: Neuromuscular disorders : NMD
Published: July 10, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.
Journal: medRxiv : the preprint server for health sciences
Published: July 02, 2026
Adeno-Associated Virus Gene Therapy Translation: Lessons from Early Regulatory Meetings.
Journal: Human gene therapy
Published: June 19, 2026
Meeting report: 2025 muscular dystrophy association summit on 'safety and challenges in gene therapy of neuromuscular diseases'.
Journal: Journal of neuromuscular diseases
Published: June 13, 2026
Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.
Journal: Stem cell research
Published: June 05, 2026
Training Together, Diagnosing Better: Federated Learning for Collagen VI-Related Dystrophies.
Journal: ArXiv
Published: May 18, 2026
Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and Management.
Journal: Human gene therapy
Published: February 13, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Last Updated: 09/26/2026