An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
about
Hereditary inclusion body myopathy: a decade of progressMolecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.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.Sialylation and muscle performance: sialic acid is a marker of muscle ageing.Genetics of GNE myopathy in the non-Jewish Persian populationHereditary inclusion-body myopathy: clues on pathogenesis and possible therapy.Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.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-PMutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesMuscle imaging findings in GNE myopathy.GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology
P2860
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P2860
An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene
description
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Dezember 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2002/12/10)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd op 2002/12/10)
@nl
наукова стаття, опублікована в грудні 2002
@uk
مقالة علمية (نشرت في 10-12-2002)
@ar
name
An Italian family with autosom ...... and mutations in the GNE gene
@ast
An Italian family with autosom ...... and mutations in the GNE gene
@en
An Italian family with autosom ...... and mutations in the GNE gene
@nl
type
label
An Italian family with autosom ...... and mutations in the GNE gene
@ast
An Italian family with autosom ...... and mutations in the GNE gene
@en
An Italian family with autosom ...... and mutations in the GNE gene
@nl
prefLabel
An Italian family with autosom ...... and mutations in the GNE gene
@ast
An Italian family with autosom ...... and mutations in the GNE gene
@en
An Italian family with autosom ...... and mutations in the GNE gene
@nl
P2093
P1433
P1476
An Italian family with autosom ...... and mutations in the GNE gene
@en
P2093
A Broccolini
M Pescatori
P A Tonali
S Servidei
P304
P356
10.1212/01.WNL.0000031808.04545.E0
P407
P577
2002-12-01T00:00:00Z