Associated Papers
A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.
Iammarino MA et al.
Journal of Neuromuscular Diseases, 2025
40356354 (PubMed )
Supplement: sj-docx-1-jnd-10.1177_22143602251339219.docx
Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.
Mendell JR et al.
Nature Medicine, 2024
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
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