Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
Cho A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
Autophagic vacuolar myopathies.
Nishino I
Current Neurology and Neuroscience Reports, 2003
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I et al.
Neurology, 2002
Distal myopathy with rimmed vacuoles: novel mutations in the GNE gene.
Tomimitsu H et al.
Neurology, 2002
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