Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan
Author:
Funder
Japan Agency for Medical Research and Development
National Center of Neurology and Psychiatry
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00415-024-12396-z.pdf
Reference20 articles.
1. Noguchi S, Keira Y, Murayama K et al (2004) Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. J Biol Chem 279:11402–11407. https://doi.org/10.1074/jbc.M313171200
2. Malicdan MC, Noguchi S, Hayashi YK et al (2009) Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model. Nat Med 15:690–695. https://doi.org/10.1038/nm.1956
3. Yonekawa T, Malicdan MC, Cho A et al (2014) Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice. Brain 137:2670–2679. https://doi.org/10.1093/brain/awu210
4. Yoshioka W, Nishino I, Noguchi S (2022) Recent advances in establishing a cure for GNE myopathy. Curr Opin Neurol 35:629–636. https://doi.org/10.1097/WCO.0000000000001090
5. Mori-Yoshimura M, Hayashi YK, Yonemoto N et al (2014) Nationwide patient registry for GNE myopathy in Japan. Orphanet J Rare Dis 9:150. https://doi.org/10.1186/s13023-014-0150-4
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