Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Item
http://www.wikidata.org/entity/Q36427122
Hereditary inclusion body myopathy: a decade of progressMetabolic manipulation of glycosylation disorders in humans and animal modelsPerspectives on distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy: contributions from an animal model. Lack of sialic acid, a central determinant in sugar chains, causes myopathy?Mutation update for GNE gene variants associated with GNE myopathy.A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.Cell stress molecules in the skeletal muscle of GNE myopathy.Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyQuantitative hydrophilic interaction chromatography-mass spectrometry analysis of N-acetylneuraminic acid and N-acetylmannosamine in human plasma.Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.Sialic acid utilization.Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
P2860

Molecular pathomechanism of distal myopathy with rimmed vacuoles.

Item
http://www.wikidata.org/entity/Q36427122
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@ast
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@en
type
label
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@ast
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@en
prefLabel
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@ast
Molecular pathomechanism of distal myopathy with rimmed vacuoles.
@en
P1433
P1476
P2093
P304
P31
P433
P478
P577
P698
P1433
P1476
Molecular pathomechanism of distal myopathy with rimmed vacuoles
@en
P2093
P304
P31
P433
P478
P577
P698