Mutation Update for GNE Gene Variants Associated with GNE Myopathy FV Celeste, T Vilboux, C Ciccone, JK de Dios, MCV Malicdan, ... Human mutation 35 (8), 915-926, 2014 | 116 | 2014 |
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy X Xu, AQ Wang, LL Latham, F Celeste, C Ciccone, MC Malicdan, ... Molecular genetics and metabolism 122 (1-2), 126-134, 2017 | 52 | 2017 |
Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy P Leoyklang, MC Malicdan, T Yardeni, F Celeste, C Ciccone, X Li, ... Biomarkers in medicine 8 (5), 641-652, 2014 | 21 | 2014 |
Genetic analysis reveals that GNE myopathy is an underdiagnosed neuromuscular disorder (P2. 044) M Huizing, MC Malicdan, F Celeste, T Vilboux, C Ciccone, W Gahl, ... Neurology 84 (14_supplement), P2. 044, 2015 | 3 | 2015 |
ManNAc Is Safe and Increases Sialic Acid Production in GNE Myopathy (P7. 061) B Class, F Celeste, X Xu, A Wang, MC Malicdan, L Latham, C Ciccone, ... Neurology 84 (14_supplement), P7. 061, 2015 | 1 | 2015 |
GP 52: Cardiac impairment in GNE myopathy MC Malicdan, L Mian, P Leoyklang, F Celeste, D Despres, P Zerfas, ... Neuromuscular Disorders 24 (9), 810, 2014 | 1 | 2014 |
SAFETY, PHARMACOKINETICS AND SIALIC ACID PRODUCTION AFTER ORAL ADMINISTRATION OF N-ACETYLMANNOSAMINE (ManNAc) TO SUBJECTS WITH GNE MYOPATHY N Carrillo, M Huizing, X Xu, AQ Wang, M Quintana, C Slota, J Perreault, ... MOLECULAR GENETICS AND METABOLISM 123 (3), 204-204, 2018 | | 2018 |
N-acetylmannosamine (ManNAc) is safe and increased sialic acid production in GNE myopathy subjects B Class, F Celeste, X Xu, A Wang, MC Malicdan, L Latham, C Ciccone, ... MOLECULAR GENETICS AND METABOLISM 114 (3), 312-313, 2015 | | 2015 |
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy M Huizing, P Leoyklang, MC Malicdan, F Celeste, WA Gahl, M He, ... MOLECULAR GENETICS AND METABOLISM 111 (3), 293-293, 2014 | | 2014 |
GNE GENE MUTATIONS ASSOCIATED WITH GNE MYOPATHY F Celeste, JK de Dios, C Ciccone, MC Malicdan, P Leoyklang, T Vilboux, ... MOLECULAR GENETICS AND METABOLISM 111 (3), 245-245, 2014 | | 2014 |