A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy [PDF]
, 2006 May Christine V. Malicdan +4 more
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Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. [PDF]
Intern MedSakai K, Yamada S, Higuchi Y, Nishino I.
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Cooperation and Willingness to Pay in Rare Diseases: Survey Evidence from GNE Myopathy Patients
Shilpi Bhattacharya +2 more
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Immunofluorescence shows AβPP and p-tau aggregates and molecule chaperones in GNE myopathy muscle.
, 2015 Honghao Li +8 more
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GNE Myopathy with Prominent Axial Muscle Involvement. [PDF]
J Clin Neurol, 2018 Park JM, Shin JH, Park JS.
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Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [PDF]
Muscle Nerve, 2018 Leoyklang P +7 more
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Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]
Muscle Nerve, 2019 Chakravorty S +10 more
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