Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
about
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigreesHereditary inclusion body myopathy: a decade of progressNon-specific accumulation of glycosphingolipids in GNE myopathyDistal myopathies: from clinical classification to molecular understanding.Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.Inclusion body myositis: an underdiagnosed condition?GNE myopathy: new name and new mutation nomenclature.Autosomal recessive distal myopathyMolecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.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 autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.Clinical and genetic aspects of distal myopathies.Sialylation and muscle performance: sialic acid is a marker of muscle ageing.Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteinsAutosomal dominant distal myopathy: linkage to chromosome 14.Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathyAbnormal increases of lysosomal cysteinine proteinases in rimmed vacuoles in the skeletal muscleNovel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.Unfolded protein response and activated degradative pathways regulation in GNE myopathy.Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathyCongenital protein hypoglycosylation diseases.A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.GNE Myopathy: Two Clusters with History and Several Founder Mutations.Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification.Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient.Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.Asymptomatic hyper-creatine-kinase-emia as sole manifestation of inclusion body myositis.Characterization of Strength and Function in Ambulatory Adults With GNE MyopathyGNE myopathy: a personal trip from bedside observation to therapeutic trials.Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.Gne depletion during zebrafish development impairs skeletal muscle structure and function.Variable phenotypes of knockin mice carrying the M712T Gne mutation.
P2860
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P2860
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
description
1981 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1981 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1981
@ast
im Juli 1981 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1981/07/01)
@sk
vědecký článek publikovaný v roce 1981
@cs
wetenschappelijk artikel (gepubliceerd op 1981/07/01)
@nl
наукова стаття, опублікована в липні 1981
@uk
مقالة علمية (نشرت في يوليو 1981)
@ar
name
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@ast
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@en
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@nl
type
label
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@ast
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@en
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@nl
prefLabel
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@ast
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@en
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@nl
P2093
P1476
Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation
@en
P2093
E. Satoyoshi
N. Sunohara
S. Ishiura
P304
P356
10.1016/0022-510X(81)90067-8
P577
1981-07-01T00:00:00Z