Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
about
Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studyHereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzlePerspectives 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 novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.Novel GNE mutations in two phenotypically distinct HIBM2 patients.Genetics of inclusion-body myositis.GNE myopathy: current update and future therapy.Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse modelGenetics 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 literatureThe hereditary inclusion body myopathy enigma and its future therapy.Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy.GNE Myopathy: Two Clusters with History and Several Founder Mutations.Epidemiology of muscular dystrophies in the Mediterranean area.Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.Hereditary Inclusion Body Myopathy (HIBM2)Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.GNE myopathy: a personal trip from bedside observation to therapeutic trials.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.The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.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-PMuscle imaging findings in GNE myopathy.Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings.GNE myopathy: from clinics and genetics to pathology and research strategies.GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and EpidemiologyGNE Myopathy with Prominent Axial Muscle Involvement
P2860
Q30489819-CC69F0C8-B0DC-45F6-8E61-BF73B8412222Q33270749-84AB533C-20BB-4DAC-82A8-ED1F8FC4CE5DQ33352578-04B1A624-E3FD-49E8-8213-48902724DB85Q34171610-7C941164-6932-452E-AE05-203FB746AFFCQ34231117-7D5FC5DE-DCE3-4EBF-852F-BC0C00862589Q34314374-C82C2DF4-A0BD-47E5-BBD3-38602BAA5B80Q34535785-54D68F69-6D8B-4619-AA6B-CA875E2B08CAQ34609397-1561F7E4-8B63-49D4-8C42-0AD433131542Q35383020-DD7F80CD-C1B4-4030-8635-7AD83061F4A3Q36022226-F8B19E77-C55D-481A-B6E2-C68839A0071BQ36299423-6AFB2977-F74E-473A-9D59-E432360ABD57Q36475020-6A6A3C47-1A1F-4A5C-9B66-C13010BC955DQ36662852-9598536D-1324-4AA5-BB8B-5366E2943143Q37329567-EAE8C8B3-330E-4BF5-B4B9-4035902D056EQ37556267-8618B1D0-58A2-48B9-BE13-DF00C26C7EC0Q37589781-4370CFEB-41BF-42DD-9209-24D0983EAC8FQ37735439-70FA128D-7188-49D7-BD6D-160A2DA24359Q37971155-5790B6E0-96B3-4F7A-BCF2-6D772DD8047FQ38615997-7C47DDF2-3E7C-4B50-A094-A3C42386F345Q38668420-14F2D985-FB85-4902-AFAC-2F3AFB42AA66Q39031151-B4F52FCE-6B36-4A08-8500-0500DF884544Q39911980-2A07E29A-9AF6-4CA4-A90B-EB0A692E01ECQ40625765-F30C11A2-50DF-4847-A854-2A056D0C95C1Q43111282-A5D1E2C4-502B-4D78-BED7-3BD1226EB0BFQ43588870-D738A6FB-2AF8-44B5-A2A2-181D67D12A3DQ45410502-CA028DC5-D2B6-420F-BE56-AB37721966A8Q45884445-4161958B-6B90-4CEE-BF53-69C638564FFBQ47204026-03F22C27-E387-4792-B622-1CA2E586E96FQ50289253-60DEDBA6-3392-46E9-A4FE-6B0C3DB0EBEFQ50289254-4255B2B5-FF47-4221-9A11-5B3C65443F67Q50296208-540D9750-C3A6-43E3-8F2A-EE8084E2EA15Q50296209-5C7A7ED1-A12A-42B7-8B6E-46EB96EC812BQ53181248-C509BA47-7E24-489F-A06B-08624DB57284Q54632370-2E40548D-FA76-4059-85D5-3CB6706BB5BAQ55268638-F0F685F2-F8BD-492A-83BE-FDE46E50634BQ58036232-C5EB3FAA-6BE7-403C-A552-46CA79E44A8AQ58760673-F445D48C-C523-402B-98F9-B419C86639A4
P2860
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
description
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2003
@ast
im Mai 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/05/13)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/05/13)
@nl
наукова стаття, опублікована в травні 2003
@uk
مقالة علمية (نشرت في 13-5-2003)
@ar
name
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@ast
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@en
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@nl
type
label
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@ast
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@en
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@nl
prefLabel
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@ast
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@en
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@nl
P2093
P1433
P1476
Hereditary inclusion body myopathy: the Middle Eastern genetic cluster
@en
P2093
G. Grabov-Nardini
I. Eisenberg
I. Wirguin
S. Mitrani-Rosenbaum
P304
P356
10.1212/01.WNL.0000061617.71839.42
P407
P577
2003-05-13T00:00:00Z