Results 101 to 110 of about 5,472 (195)

Preclinical Assessment of wt GNE Gene Plasmid for Management of Hereditary Inclusion Body Myopathy 2 (HIBM2)

, 2008
Hereditary Inclusion Body Myopathy (HIBM2) is a chronic progressive skeletal muscle wasting disorder which generally leads to complete disability before the age of 50 years. There is currently no effective therapeutic treatment for HIBM2. Development of
John Eager, Julie Ogden, Alex Tong, Chris Jay, Neil Senzer, Daniel Darvish, Gregory Nemunaitis, John Nemunaitis, Stephan Hinderlich, Phillip B Maples   +9 more
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GNE Myopathy: Rare Muscle Weakness Disease

GNE myopathy is a rare autosomal recessive muscle-atrophying disease. It is caused by mutations in the glucosamine GNE gene that decrease sialic acid production, thereby disrupting muscle function.
Chen, Teressa
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Noms des villes et noms des champs en -a(i)gne, -e(i)gne ou -o(i)gne : essai de grammaire onomastique

, 2014
Gabriel France. Noms des villes et noms des champs en -a(i)gne, -e(i)gne ou -o(i)gne : essai de grammaire onomastique. In: Noms des villes, noms des champs.
Gabriel, France
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Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source

Production of sialic acid affected by GNE gene mutations

, 2012
Includes bibliographical references (pages 57-63)Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive disorder characterized by adult onset muscle-wasting, affecting both proximal and distal muscles.
Rajaei, Atefeh
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GNE^M712T kidney GM3 levels remain in normal range.

, 2013
GneM712T/M712T (grey) and Gne+/+ (white) mouse kidney gangliosides were analyzed by HPLC. No significant difference could be noted. HPLC data from a minimum of 3 replicates is pooled for the Gne+/+ and GneM712T/M712T samples.
Zoé Coulombe (365862), Jacques P. Tremblay (304709), Thomas Paccalet (222440)   +2 more
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Preclinical assessment of GNE^wt/bi-shRNA-GNE^M743T lipoplex product development for GNE myopathy

GNE myopathy is a heredity disease of unmet medical need associated with progressive skeletal muscle wasting, atrophy and weakness caused by mutations in the GNE gene. GNE plays a pivotal role in sialic acid production. Sialic acid is a critical part of glycoprotein, ganglioside and glycolipid cell-cell interaction which is necessary for normal ...
Kerneis, Fabienne, Jay, Christopher M, Rao, Donald, Winchester, Jeremy, Nemunaitis, Alexander, Nemunaitis, Emily, Bognar, Ernest, Wallraven, Gladice, Stanbery, Laura, Walter, Adam, Sarshar, Sep, Nemunaitis, John   +11 more
openaire   +1 more source

Economic Fluctuations in Japan during the Interwar Period -- Re- estimations of the LTES Personal [PDF]

To date, most research on Interwar Period economic fluctuations in Japan has been based on Estimates of Long-term Economic Statistics of Japan (LTES), edited by Kazushi Ohkawa et al. Regardless, the LTES data are just one set of estimations. They require
Kiyohito Utsunomiya
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Une sépulture wisigothique à Valentine (Hte-Gne)

, 1986
Fouet Georges. Une sépulture wisigothique à Valentine (Hte-Gne). In: Pallas, Hors-série 1986. Mélanges offerts à Monsieur Michel Labrousse. pp.
Fouet, Georges
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GNE protein expression and subcellular distribution are unaltered in HIBM

Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed.
Mitrani-Rosenbaum S, Hinderlich S, Lochmuller H, Tournev I, Merlini L, Aleo A, Argov Z, Krause S, Walter MC   +8 more
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