| 1 |
35052006 | Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect. | 2022 Jan 20 |
1 |
| 2 |
35398442 | Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder. | 2022 Aug |
1 |
| 3 |
35503500 | Effect of GNE Mutations on Cytoskeletal Network Proteins: Potential Gateway to Understand Pathomechanism of GNEM. | 2022 May 3 |
2 |
| 4 |
35524895 | Tissue-specific isoform expression of GNE gene in human tissues. | 2022 May 7 |
1 |
| 5 |
33029681 | Tissue specific expression of sialic acid metabolic pathway: role in GNE myopathy. | 2021 Mar |
3 |
| 6 |
33225515 | Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients. | 2021 Feb |
2 |
| 7 |
33816461 | Altered Actin Dynamics in Cell Migration of GNE Mutant Cells. | 2021 |
2 |
| 8 |
33893973 | Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy. | 2021 Jun |
6 |
| 9 |
34555215 | Elucidation of ER stress and UPR pathway in sialic acid-deficient cells: Pathological relevance to GNEM. | 2021 Dec |
2 |
| 10 |
34676965 | Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre. | 2021 Nov |
2 |
| 11 |
34858435 | Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE. | 2021 |
1 |
| 12 |
32664106 | The level of GNE and its relationship with behavioral phenotypes in children with autism spectrum disorder. | 2020 Jul 10 |
3 |
| 13 |
32736841 | The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates. | 2020 Aug |
1 |
| 14 |
30390020 | GNE myopathy in Chinese population: hotspot and novel mutations. | 2019 Jan |
2 |
| 15 |
31036580 | A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. | 2019 Apr 30 |
1 |
| 16 |
31121216 | Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis. | 2019 Oct |
1 |
| 17 |
31135625 | Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient. | 2019 Jun |
1 |
| 18 |
29305133 | 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. | 2018 Feb |
2 |
| 19 |
29720219 | GNE myopathy: from clinics and genetics to pathology and research strategies. | 2018 May 2 |
1 |
| 20 |
29743626 | Role of IGF-1R in ameliorating apoptosis of GNE deficient cells. | 2018 May 9 |
1 |
| 21 |
29764940 | The tetrameric structure of sialic acid-synthesizing UDP-GlcNAc 2-epimerase from Acinetobacter baumannii: A comparative study with human GNE. | 2018 Jun 29 |
2 |
| 22 |
30374284 | Fighting the Cause of Alzheimer's and GNE Myopathy. | 2018 |
2 |
| 23 |
27829678 | Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. | 2017 Feb |
3 |
| 24 |
27966821 | Increased Polysialylation of the Neural Cell Adhesion Molecule in a Transgenic Mouse Model of Sialuria. | 2017 Jul 4 |
1 |
| 25 |
28267778 | Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. | 2017 |
7 |
| 26 |
28424265 | Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions. | 2017 Jun 9 |
1 |
| 27 |
28505249 | Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. | 2017 Aug 15 |
2 |
| 28 |
28641925 | Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. | 2017 Sep |
5 |
| 29 |
28895049 | Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis. | 2017 Dec |
3 |
| 30 |
25966635 | Genetics of GNE myopathy in the non-Jewish Persian population. | 2016 Feb |
1 |
| 31 |
26968811 | Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy. | 2016 Mar 22 |
1 |
| 32 |
26980148 | Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis. | 2016 Mar 16 |
2 |
| 33 |
27854209 | Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study. | 2016 Mar 3 |
2 |
| 34 |
23842869 | UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis. | 2015 |
2 |
| 35 |
25002140 | GNE myopathy: current update and future therapy. | 2015 Apr |
4 |
| 36 |
25149037 | Hereditary inclusion-body myopathies. | 2015 Apr |
1 |
| 37 |
26231298 | GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. | 2015 Sep |
2 |
| 38 |
26329152 | [Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles]. | 2015 Sep |
1 |
| 39 |
27858732 | Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. | 2015 Jun 4 |
2 |
| 40 |
24027297 | Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). | 2014 Aug |
2 |
| 41 |
24048908 | Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis. | 2014 Aug |
2 |
| 42 |
24136589 | Non-specific accumulation of glycosphingolipids in GNE myopathy. | 2014 Mar |
4 |
| 43 |
24474513 | Role of UDP-N-acetylglucosamine2-epimerase/N-acetylmannosamine kinase (GNE) in β1-integrin-mediated cell adhesion. | 2014 Oct |
3 |
| 44 |
24796702 | Mutation update for GNE gene variants associated with GNE myopathy. | 2014 Aug |
2 |
| 45 |
25182749 | Atypical presentation of GNE myopathy with asymmetric hand weakness. | 2014 Dec |
2 |
| 46 |
25257349 | GNE myopathy associated with congenital thrombocytopenia: a report of two siblings. | 2014 Dec |
3 |
| 47 |
23437777 | Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. | 2013 May |
2 |
| 48 |
24285971 | A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy. | 2013 Oct |
4 |
| 49 |
22049060 | Loss of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) induces apoptotic processes in pancreatic carcinoma cells. | 2012 Feb |
1 |
| 50 |
22402719 | [Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles]. | 2012 Mar |
1 |