Keywords: ALT; alanine aminotransferase; AST; aspartate transaminase; CA; carbohydrate antigen; CMP; cytidine monophosphate; CK; cytokeratin; DMB; dihydrochloride; EM; electromagnetic; FFPE; formalin-fixed, paraffin-embedded; GGC; Greenwood Genetic Center; GlcNAc;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: AChE; Acetylcholinesterase; AChR; Acetylcholine Receptor; ALG13,14; UDP-N-acetylglucosaminyltransferase subunit 13, 14; AMDHD2; Amidohydrolase domain containing 2; ATP; Adenosine triphosphate; Aβ; Amyloid β; CDG; Congenital disorders of glycosylation; C
Keywords: HIBM; hereditary inclusion-body myopathy; s-IBM; sporadic inclusion-body myositis; GNE; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; GNE/MNK; UDP-GlcNAc 2-epimerase/ManNAc kinase; DMRV; distal myopathy with rimmed vacuoles; CK; creatine
Regular ArticleSafety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
Keywords: First-in-human study; GlcNAc kinase; GNE; N-acetylneuraminic acid; Pharmacokinetics; Sialylation;
Case reportGNE myopathy associated with congenital thrombocytopenia: A report of two siblings
Keywords: GNE; Distal myopathy with rimmed vacuoles; Sialic acid; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Thrombocytopenia; Exome sequencing;
Acoustic Parameters for Classification of Breathiness in Continuous Speech According to the GRBAS Scale
Keywords: Dysphonic voice; Breathiness; GRBAS scale; GNE; HLR; BRI; RPK; CPP; Classification; Continuous speech;
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations
Keywords: GNE; Distal myopathy with rimmed vacuoles; Hereditary inclusion body myopathy
Novel GNE mutations in two phenotypically distinct HIBM2 patients
Keywords: IBM; GNE; Distal myopathy; Rimmed vacuoles
Myopathies distales avec mutations du gène GNE : à propos de quatre cas
Keywords: Myopathie distale; GNE; Vacuoles bordées; Myopathie de Nonaka; Distal myopathy; GNE; Rimmed vacuoles; Nonaka myopathy;
The collapsin response mediator protein 1 (CRMP-1) and the promyelocytic leukemia zinc finger protein (PLZF) bind to UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis
Keywords: Yeast two-hybrid screen; Sialylation; Protein–protein interaction; GNE; PLZF; CRMP-1
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation
Keywords: Hereditary inclusion body myopathy; Muscle cells; GNE; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Sialic acid; Sialylation;
α-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy
Keywords: Inclusion body myopathy; HIBM; GNE; Dystrophin-glycoprotein complex; Dystroglycan;
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells
Keywords: BFA; Brefeldin A; GNE; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; HIBM; hereditary inclusion body myopathy; HPA; Helix pomatia agglutinin; Neu5Ac; N-acetylneuraminic acid; PDI; protein disulfide isomerase; WGA; wheat germ agglutinin;