Results 201 to 210 of about 51,102 (238)
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Glycogen accumulation in GNE myopathy
Neuromuscular Disorders, 2022Andre Granger +3 more
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P.3.4 In vivo GNE interactions
Neuromuscular Disorders, 2013GNE Myopathy (formerly designated HIBM/DMRV) is a rare neuromuscular recessive disorder caused by missense mutations in GNE, the key enzyme of sialic acid biosynthesis. We have previously shown that GNE interacts with alpha-actinin1 and alpha-actinin2 in vitro, either at different interaction sites on the GNE protein, or alternatively by changing the ...
Z. Argov +4 more
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[Therapeutic development for GNE myopathy.]
Clinical calcium, 2017GNE myopathy is rare muscle disease which affect distal muscles. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. GNE myopathy model mouse was established
Naoki, Suzuki +4 more
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Longitudinal study for GNE gene (ClinBio-GNE)
Neuromuscular Disorders, 2015T. Gidaro +7 more
openaire +1 more source
eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy
Genetics in Medicine, 2022Jessica Jang +6 more
openaire +1 more source
Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre
Journal of Cellular and Molecular Medicine, 2021Kai-Yue Zhang, Yue-Bei Luo, Fangfang Bi
exaly