Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Nationwide patient registry for GNE myopathy in Japan.
Mori-Yoshimura M et al.
Orphanet Journal of Rare Diseases, 2014
25303967 (PubMed )
Supplement: 13023_2014_150_MOESM1_ESM.xlsx › Sheet1
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
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Cell stress molecules in the skeletal muscle of GNE myopathy.
Fischer C et al.
Bmc Neurology, 2013
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I et al.
Neurology, 2002
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