Associated Papers
Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.
Boonsri P et al.
Plos One, 2026
Novel missense variants associated with GNE myopathy.
Ranta-Aho J et al.
Neuromuscular Disorders : Nmd, 2025
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
40225917 (PubMed )
Supplement: 7377504.f3.xlsx › CADD___23
Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort.
Attri S et al.
Open Medicine (warsaw, Poland), 2021
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch 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
GNE myopathy: new name and new mutation nomenclature.
Huizing M et al.
Neuromuscular Disorders : Nmd, 2014
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