|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
|
27829678 |
2017 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.
|
28099567 |
2017 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
|
28641925 |
2017 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
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
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Genetics of GNE myopathy in the non-Jewish Persian population.
|
25966635 |
2016 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
|
25617006 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report.
|
26161358 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
|
27858732 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
|
25986339 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
|
25986339 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.
|
25978849 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
|
26231298 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
|
27858732 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
GNE myopathy: current update and future therapy.
|
25002140 |
2015 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
GNE myopathy in India.
|
24005727 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Atypical presentation of GNE myopathy with asymmetric hand weakness.
|
25182749 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.
|
24737350 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
GNE myopathy in India.
|
24005727 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Non-specific accumulation of glycosphingolipids in GNE myopathy.
|
24136589 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
|
25123033 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
|
24027297 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
CausalMutation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |
|
| Entrez Id: |
1211 |
| Gene Symbol: |
CLTA |
CLTA
|
NONAKA MYOPATHY
|
0.100 |
GeneticVariation |
CLINVAR |
Mutation update for GNE gene variants associated with GNE myopathy.
|
24796702 |
2014 |