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Hereditary inclusion body myopathy: a decade of progress

Hereditary inclusion body myopathy: a decade of progress

http://www.wikidata.org/entity/Q28251720

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Treatment for inclusion body myositis Treatment for inclusion body myositis Sialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regeneration Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE Crystal Structures of N -Acetylmannosamine Kinase Provide Insights into Enzyme Activity and Inhibition Non-specific accumulation of glycosphingolipids in GNE myopathy Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Mutation update for GNE gene variants associated with GNE myopathy.A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.Atypical presentation of GNE myopathy with asymmetric hand weakness.Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.GNE myopathy: current update and future therapy.Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.The Gne M712T mouse as a model for human glomerulopathy.Quantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma.Muscle biopsy evaluation in neuromuscular disorders.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.Genetics of GNE myopathy in the non-Jewish Persian population Hereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literature Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles A rare association of early-onset inclusion body myositis, rheumatoid arthritis and autoimmune thyroiditis: a case report and literature review.Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study Animal models of inflammatory myopathy.A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.A Systematic Review and Meta-Analysis of Prevalence Studies of Sporadic Inclusion Body Myositis.Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.Two recurrent mutations are associated with GNE myopathy in the North of Britain.Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.[New aspects on the pathogenesis of myositis].Gne depletion during zebrafish development impairs skeletal muscle structure and function.Variable phenotypes of knockin mice carrying the M712T Gne mutation.Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

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Hereditary inclusion body myopathy: a decade of progress

http://www.wikidata.org/entity/Q28251720

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2009 nî lūn-bûn

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2009 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2009 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Hereditary inclusion body myopathy: a decade of progress

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J.BBADIS.2009.07.001

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Biochimica et Biophysica Acta

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Hereditary inclusion body myopathy: a decade of progress

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Donna M Krasnewich

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UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation

Molecular cloning and characterization of murine and human N-acetylglucosamine kinase

Molecular cloning and characterization of human podocalyxin-like protein. Orthologous relationship to rabbit PCLP1 and rat podocalyxin

A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence

Dominant inheritance of sialuria, an inborn error of feedback inhibition

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737)

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

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