×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
27829678
2017
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
28717665
2017
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
26231298
2015
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
GNE myopathy: current update and future therapy.
25002140
2015
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
24695763
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Mutation update for GNE gene variants associated with GNE myopathy.
24796702
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Atypical presentation of GNE myopathy with asymmetric hand weakness.
25182749
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
GNE myopathy in India.
24005727
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Mutation update for GNE gene variants associated with GNE myopathy.
24796702
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Non-specific accumulation of glycosphingolipids in GNE myopathy.
24136589
2014
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran.
23278550
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
23437777
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
23549799
2013
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
22507750
2012
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
22196754
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
21708040
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
21307865
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
21708040
2011
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
20059379
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
20300792
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
GeneticVariation
disease
CLINVAR
Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.
20175955
2010
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
16810679
2006
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
16503651
2006
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.
15670773
2005
×
Entrez Id:
1211
Gene Symbol:
CLTA
CLTA
0.100
CausalMutation
disease
CLINVAR
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
15987957
2005