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
Novel GNE compound heterozygous mutations in a GNE myopathy patient.
Cai H et al.
Muscle & Nerve, 2013
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