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- W2805147104 abstract "GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state. Molecular research and animal modelling significantly moved forward understanding of GNE myopathy mechanisms and suggested therapeutic interventions to alleviate the symptoms. Multiple therapeutic attempts are being made to supplement sialic acid depleted in GNE myopathy muscle cells. Translational research field provided valuable knowledge through natural history studies, patient registries and clinical trial, which significantly contributed to bringing forward an era of GNE myopathy treatment. In this review, we are summarising current GNE myopathy, scientific trends and open questions, which would be of significant interest for a wide neuromuscular diseases community." @default.
- W2805147104 created "2018-06-13" @default.
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- W2805147104 date "2018-05-02" @default.
- W2805147104 modified "2023-09-23" @default.
- W2805147104 title "GNE myopathy: from clinics and genetics to pathology and research strategies" @default.
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- W2805147104 doi "https://doi.org/10.1186/s13023-018-0802-x" @default.
- W2805147104 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5930817" @default.
- W2805147104 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29720219" @default.
- W2805147104 hasPublicationYear "2018" @default.
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