Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
about
Hereditary inclusion body myopathy: a decade of progressDistal myopathies: from clinical classification to molecular understanding.UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.Molecular 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.Perspectives 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.Aquaporin-4 expression in distal myopathy with rimmed vacuoles.A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.GNE myopathy: current update and future therapy.Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.Genetics of GNE myopathy in the non-Jewish Persian populationClinical characteristics and molecular genetic analysis of Korean patients with GNE myopathyDistal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.Two recurrent mutations are associated with GNE myopathy in the North of Britain.Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events.Defective GNE does not hydrolyse UDP-GlcNAcDefective GNE does not phosphorylate ManNAc to ManNAc-6-PGNE hydrolyzes/epimerises UDP-GlcNAc to ManNAc and UDPGNE phosphorylates ManNAc to ManNAc-6-PGNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesHereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.
P2860
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P2860
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
description
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2004
@ast
im Mai 2004 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2004/05/11)
@sk
vědecký článek publikovaný v roce 2004
@cs
wetenschappelijk artikel (gepubliceerd op 2004/05/11)
@nl
наукова стаття, опублікована в травні 2004
@uk
مقالة علمية (نشرت في 11-5-2004)
@ar
name
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@ast
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@en
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@nl
type
label
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@ast
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@en
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@nl
prefLabel
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@ast
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@en
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@nl
P2093
P1433
P1476
Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant
@en
P2093
H. Mizusawa
H. Tomimitsu
I. Kanazawa
J. Shimizu
K. Ishikawa
N. Ohkoshi
P304
P356
10.1212/01.WNL.0000123115.23652.6C
P407
P577
2004-05-11T00:00:00Z