Last Updated: 09/26/2026
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Found 144 publications
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACT.
Journal: Journal of neuromuscular diseases
Published: April 24, 2026
VMA21 deficiency leads to autophagic dysregulation and altered vesicle trafficking in X-linked myopathy with excessive autophagy.
Journal: Acta neuropathologica
Published: March 26, 2026
Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy.
Journal: Acta neuropathologica communications
Published: December 21, 2025
Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study.
Journal: Neuromuscular disorders : NMD
Published: December 10, 2025
J-domain proteins: from molecular mechanisms to diseases.
Journal: Cell stress & chaperones
Published: December 09, 2025
Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.
Journal: Annals of clinical and translational neurology
Published: November 21, 2025
Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy.
Journal: Neurology
Published: October 28, 2025
Mutations in Hsp40 co-chaperone change the canonical interdomain interactions stimulating LGMDD1 myopathy.
Journal: The Journal of biological chemistry
Published: September 03, 2025
Mutations in Hsp40 co-chaperone change the unique canonical inter-domain interactions stimulating LGMDD1 myopathy.
Journal: bioRxiv : the preprint server for biology
Published: July 14, 2025
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.
Journal: Neurology. Genetics
Published: June 10, 2025
Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.
Journal: Current opinion in neurology
Published: June 09, 2025
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: May 20, 2025
Last Updated: 09/26/2026