Last Updated: 09/26/2026
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Found 140 publications
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2.
Journal: Journal of neurology
Published: March 10, 2026
Progressive Myopathy and Respiratory Failure in a 7-Year-Old Boy With m.3251A>G MT-TL1 Mutation.
Journal: Journal of clinical neuromuscular disease
Published: March 02, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study.
Journal: Journal of neuromuscular diseases
Published: February 06, 2026
Integrating Serum Neurofilament Light Chain Into Amyotrophic Lateral Sclerosis Diagnostic Criteria.
Journal: Muscle & nerve
Published: August 21, 2025
Chronic Immune Peripheral Nerve Myelinopathies-A Plea for Precision.
Journal: JAMA neurology
Published: August 18, 2025
ACOX1 gain-of-function post-mortem neuropathology is distinct from ACOX1 loss-of-function: case report and literature review.
Journal: Free neuropathology
Published: August 18, 2025
Gene therapy ameliorates neuromuscular pathology in CLN3 disease.
Journal: Acta neuropathologica communications
Published: April 08, 2025
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Journal: Orphanet journal of rare diseases
Published: March 20, 2025
Expression of Fibroblast Growth Factor Receptor 3 (FGFR3) in the Human Peripheral Nervous System: Implications for the Putative Pathogenic Role of FGFR3 Autoantibodies in Neuropathy.
Journal: bioRxiv : the preprint server for biology
Published: March 17, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2.
Journal: Journal of cachexia, sarcopenia and muscle
Published: November 27, 2024
Seeding-competent TDP-43 persists in human patient and mouse muscle.
Journal: Science translational medicine
Published: November 27, 2024
Seeding competent TDP-43 persists in human patient and mouse muscle.
Journal: bioRxiv : the preprint server for biology
Published: April 15, 2024
Last Updated: 09/26/2026