Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
about
Hereditary inclusion body myopathy: a decade of progressNon-specific accumulation of glycosphingolipids in GNE myopathyThe proteomic profile of hereditary inclusion body myopathyMetabolic 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?Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model miceA 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 myopathyNovel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.Genetics of GNE myopathy in the non-Jewish Persian populationHereditary inclusion body myopathy: A myopathy with unique topography of weakness, yet frequently misdiagnosed: Case series and review of literatureClinical characteristics and molecular genetic analysis of Korean patients with GNE myopathyAceneuramic 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 StudyMutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.Characterization of Strength and Function in Ambulatory Adults With GNE MyopathyMuscle histopathology in today's era of molecular genetics: Role and limitations.Characterization of the Asian myopathy patients with VCP mutations.Hereditary inclusion body myopathy in Persian Jews: a case report from Iran.Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis.Gne depletion during zebrafish development impairs skeletal muscle structure and function.Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBMFighting the Cause of Alzheimer's and GNE Myopathy
P2860
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P2860
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@ast
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@en
type
label
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@ast
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@en
prefLabel
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@ast
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@en
P2093
P2860
P1476
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
@en
P2093
Ichizo Nishino
Ikuya Nonaka
Satoru Noguchi
P2860
P2888
P356
10.1007/S11910-005-0025-0
P577
2005-02-01T00:00:00Z