Results 151 to 160 of about 2,519,227 (189)

Comparison of Lectins as Staining Biomarkers for GNE Myopathy Gene Therapy

The FASEB Journal, 2022
GNE myopathy (GNEM) is an autosomal recessive disease in which mutations in the GNE gene lead to skeletal muscle weakness and progressive wasting. GNE encodes an essential enzyme of the sialic acid (SA) biosynthetic pathway; thus, decreased SA levels in
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Disease mechanisms associated with mutations of the GNE gene

Drug Discovery Today: Disease Mechanisms, 2005
The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. GNE mutations underlie two distinct disorders, dominant inherited sialuria characterized by dramatically increased sialic acid levels and recessive hereditary inclusion body myopathy (HIBM), characterized by decreased ...
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An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Neurology, 2002
The term hereditary inclusion-body myopathies (h-IBM) refers to several syndromes with autosomal recessive (AR) or dominant inheritance.1 Although clinical presentation may vary among different forms, they all lead to severe disability and share common findings at muscle biopsy.
Broccolini, Aldobrando, Pescatori, M, D'Amico, Adele, Sabino, A, Silvestri, Gabriella, Ricci, Enzo, Servidei, Serenella, Tonali, Pa, Mirabella, Massimiliano   +8 more
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eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy

Genetics in Medicine, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William Gahl, Francis Rossignol   +6 more
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Late‐onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

Muscle & Nerve, 2005
AbstractWe report two brothers from a Japanese family with a late‐onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded.
Naoki, Suzuki, Masashi, Aoki, Hideki, Mizuno, Yoshiaki, Onodera, Toshiaki, Takahashi, Tetsuya, Nagata, Maki, Tateyama, Yasuto, Itoyama   +7 more
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Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

Muscle & Nerve, 2006
AbstractDistal myopathy with rimmed vacuoles (DMRV) is an early‐adult‐onset, distal myopathy caused by a mutation of the UDP‐N‐acetylglucosamine 2 epimerase/N‐acetylmannosamine kinase (GNE) gene. We herein report four Thai patients with DMRV who carried compound heterozygous mutations of the GNE gene including three novel (p.G89R, p.P511T, and p.I656N)
Teerin, Liewluck, Theeraphong, Pho-Iam, Chanin, Limwongse, Wanna, Thongnoppakhun, Kanokwan, Boonyapisit, Natte, Raksadawan, Kumiko, Murayama, Yukiko K, Hayashi, Ichizo, Nishino, Tumtip, Sangruchi   +9 more
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Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

The Journal of Gene Medicine, 2010
AbstractBackgroundHereditary inclusion body myopathy (HIBM) is an autosomal recessive adult onset myopathy. It is characterized by mutations of the GNE (UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase) gene. Afflicted patients have no therapeutic options.
Gregory, Nemunaitis, Phillip B, Maples, Chris, Jay, William A, Gahl, Marjan, Huizing, Justin, Poling, Alex W, Tong, Anagha P, Phadke, Beena O, Pappen, Cynthia, Bedell, Nancy S, Templeton, Joseph, Kuhn, Neil, Senzer, John, Nemunaitis   +13 more
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GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY

Molecular Genetics and Metabolism, 2022
Jessica M. Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William A. Gahl, Francis Rossignol   +6 more
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[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Revue neurologique, 2008
Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by ...
A, Béhin, O, Dubourg, P, Laforêt, C, Pêcheux, R, Bernard, N, Lévy, B, Eymard   +6 more
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Longitudinal study for GNE gene (ClinBio-GNE)

Neuromuscular Disorders, 2015
T. Gidaro, D. Duchene, G. Ollivier, V. Decostre, J.Y. Hogrel, P. Carlier, A. Behin, L. Servais   +7 more
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