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
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Garland J et al.
Molecular Genetics & Genomic Medicine, 2017
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
Nishino I et al.
Neurology, 2002
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