Last Updated: 09/26/2026
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Found 66 publications
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
Spectrum of Neurofascin-155 Autoimmune Nodopathy in a Pediatric Cohort: A Single Center Experience.
Journal: Pediatric neurology
Published: April 27, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.
Journal: Journal of neurology
Published: March 10, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
Journal: Annals of clinical and translational neurology
Published: February 04, 2026
Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations.
Journal: Journal of neuromuscular diseases
Published: November 10, 2025
An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction.
Journal: Neuron
Published: September 29, 2025
Spinal Muscular Atrophy-Survivorship and Care in a New Therapeutic Landscape.
Journal: Pediatric neurology
Published: July 21, 2025
Adrenal Suppression in Duchenne Muscular Dystrophy: Management Strategies Incorporating Novel Steroid Vamorolone.
Journal: Journal of the Endocrine Society
Published: June 18, 2025
Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.
Journal: Neuromuscular disorders : NMD
Published: June 17, 2025
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.
Journal: Journal of neuromuscular diseases
Published: February 19, 2025
Current clinical applications of AAV-mediated gene therapy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: January 17, 2025
Last Updated: 09/26/2026