Associated Papers
Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.
Cocchiararo I et al.
Journal of Neuromuscular Diseases, 2025
Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy.
Bardhan M et al.
Global Medical Genetics, 2024
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo I et al.
Human Molecular Genetics, 2023
Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.
Cotta A et al.
Journal of the Neurological Sciences, 2020
Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy.
Fernandes SA et al.
Disease Models & Mechanisms, 2020
Select a paper to view details