ReviewJournal of clinical medicine2026
GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects.
Review in Journal of clinical medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
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0 citing papers in PubMed.
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Authors and funding
2 authors.
Funding
Abstract
Twenty-five years after our identification of the genetic defect in GNE Myopathy (GNEM), we review the current state-of-affairs in the research of this unique myopathy. In this narrative review, we describe the clinical aspects of this myopathy, the genetics of this muscle disorder, the biochemistry of the GNE enzyme, and the animal models that have been developed. We critically discuss the accumulating scientific and clinical data that show that hyposialylation cannot be the sole explanation for the disease pathomechanism. The negative or minimal effects of sialic acid supplementation in clinical therapy trials of GNEM call for a re-evaluation of future planned trials. We review the known facts and the current enigmas as well as research controversies in this field. We also discuss the prospects for further basic research, as a reliable animal model of GNEM is lacking, and future genetic therapy of this myopathy.
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