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
openalex +1 more source
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.
europepmc +1 more source
Immunofluorescence shows AβPP and p-tau aggregates and molecule chaperones in GNE myopathy muscle.
, 2015 Honghao Li +8 more
openalex +2 more sources
Cooperation and Willingness to Pay in Rare Diseases: Survey Evidence from GNE Myopathy Patients
S.C. Bhattacharya +2 more
openalex +1 more source
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]
, 2016 et al,, Pestronk, Alan
core +1 more source
Quantification of lectin fluorescence in GNE myopathy muscle biopsies. [PDF]
Muscle Nerve, 2018 Leoyklang P +7 more
europepmc +1 more source
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [PDF]
Muscle Nerve, 2019 Chakravorty S +10 more
europepmc +1 more source
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. [PDF]
J Cell Mol Med, 2018 Wu Y +10 more
europepmc +1 more source