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• W2897563247 abstract "GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease characterized by progressive skeletal muscle atrophy. It has an estimated prevalence of 1 to 9:1,000,000. GNE myopathy is caused by mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. The pathophysiology of the disease is not entirely understood, but hyposialylation of muscle glycans is thought to play an essential role. The typical presentation is bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood. The disease slowly progresses over the next decades to involve skeletal muscles throughout the body, with relative sparing of the quadriceps until late stages of the disease. The diagnosis of GNE myopathy should be considered in young adults presenting with bilateral foot drop. Histopathologic findings on muscle biopsies include fiber size variation, atrophic fibers, lack of inflammation, and the characteristic rimmed vacuoles on modified Gomori trichome staining. The diagnosis is confirmed by the presence of pathogenic (mostly missense) mutations in both alleles of the GNE gene. Although there is no approved therapy for this disease, preclinical and clinical studies of several potential therapies are underway, including substrate replacement and gene therapy-based strategies. However, developing therapies for GNE myopathy is complicated by several factors, including the rare incidence of disease, limited preclinical models, lack of reliable biomarkers, and slow disease progression." @default.
• W2897563247 created "2018-10-26" @default.
• W2897563247 creator A5049265350 @default.
• W2897563247 creator A5051192150 @default.
• W2897563247 creator A5086550680 @default.
• W2897563247 date "2018-10-01" @default.
• W2897563247 modified "2023-10-14" @default.
• W2897563247 title "GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges" @default.
• W2897563247 cites W1134559931 @default.
• W2897563247 cites W134408951 @default.
• W2897563247 cites W1554390784 @default.
• W2897563247 cites W1577222049 @default.
• W2897563247 cites W1604428153 @default.
• W2897563247 cites W1820327275 @default.
• W2897563247 cites W1902166587 @default.
• W2897563247 cites W1945511765 @default.
• W2897563247 cites W1964031307 @default.
• W2897563247 cites W1965636817 @default.
• W2897563247 cites W1971892769 @default.
• W2897563247 cites W1978579655 @default.
• W2897563247 cites W1981635214 @default.
• W2897563247 cites W1982303469 @default.
• W2897563247 cites W1983380634 @default.
• W2897563247 cites W1985312405 @default.
• W2897563247 cites W1987846346 @default.
• W2897563247 cites W1994451781 @default.
• W2897563247 cites W1996284481 @default.
• W2897563247 cites W1998680302 @default.
• W2897563247 cites W2001152099 @default.
• W2897563247 cites W2001855472 @default.
• W2897563247 cites W2003339889 @default.
• W2897563247 cites W2003481037 @default.
• W2897563247 cites W2005251570 @default.
• W2897563247 cites W2005640343 @default.
• W2897563247 cites W2006527626 @default.
• W2897563247 cites W2015611528 @default.
• W2897563247 cites W2016889536 @default.
• W2897563247 cites W2019142417 @default.
• W2897563247 cites W2027412738 @default.
• W2897563247 cites W2027648652 @default.
• W2897563247 cites W2034436452 @default.
• W2897563247 cites W2037400245 @default.
• W2897563247 cites W2039705224 @default.
• W2897563247 cites W2042669435 @default.
• W2897563247 cites W2049633866 @default.
• W2897563247 cites W2049857290 @default.
• W2897563247 cites W2051978340 @default.
• W2897563247 cites W2055419546 @default.
• W2897563247 cites W2057643731 @default.
• W2897563247 cites W2059148636 @default.
• W2897563247 cites W2059945325 @default.
• W2897563247 cites W2061480697 @default.
• W2897563247 cites W2062666445 @default.
• W2897563247 cites W2065637939 @default.
• W2897563247 cites W2065753615 @default.
• W2897563247 cites W2065759746 @default.
• W2897563247 cites W2068007492 @default.
• W2897563247 cites W2069042382 @default.
• W2897563247 cites W2074786661 @default.
• W2897563247 cites W2076595535 @default.
• W2897563247 cites W2076807583 @default.
• W2897563247 cites W2077867381 @default.
• W2897563247 cites W2078042911 @default.
• W2897563247 cites W2086281676 @default.
• W2897563247 cites W2086747333 @default.
• W2897563247 cites W2088055204 @default.
• W2897563247 cites W2088435739 @default.
• W2897563247 cites W2094527382 @default.
• W2897563247 cites W2094972429 @default.
• W2897563247 cites W2100788661 @default.
• W2897563247 cites W2102703557 @default.
• W2897563247 cites W2103307044 @default.
• W2897563247 cites W2106509222 @default.
• W2897563247 cites W2109627943 @default.
• W2897563247 cites W2117763238 @default.
• W2897563247 cites W2120533079 @default.
• W2897563247 cites W2121748852 @default.
• W2897563247 cites W2139452287 @default.
• W2897563247 cites W2139859512 @default.
• W2897563247 cites W2145250227 @default.
• W2897563247 cites W2150380845 @default.
• W2897563247 cites W2153133997 @default.
• W2897563247 cites W2157040093 @default.
• W2897563247 cites W2162498914 @default.
• W2897563247 cites W2167290543 @default.
• W2897563247 cites W2171456276 @default.
• W2897563247 cites W2171628897 @default.
• W2897563247 cites W2172161069 @default.
• W2897563247 cites W2197987793 @default.
• W2897563247 cites W2273721533 @default.
• W2897563247 cites W2300584298 @default.
• W2897563247 cites W2317316573 @default.
• W2897563247 cites W2329412613 @default.
• W2897563247 cites W2436919908 @default.
• W2897563247 cites W2475950948 @default.
• W2897563247 cites W2527635261 @default.
• W2897563247 cites W2551843753 @default.
• W2897563247 cites W2584552269 @default.

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