Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele

(2016) Wenhua Zhu et al.   JOURNAL OF HUMAN GENETICS

Mutation Update forGNEGene Variants Associated with GNE Myopathy

(2014) Frank V. Celeste et al.   HUMAN MUTATION

GNE myopathy: current update and future therapy

(2014) Ichizo Nishino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

GNE myopathy: A prospective natural history study of disease progression

(2014) Madoka Mori-Yoshimura et al.   NEUROMUSCULAR DISORDERS

Non-specific accumulation of glycosphingolipids in GNE myopathy

(2013) Katherine A. Patzel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

GNE myopathy in India

(2013) Atchayaram Nalini et al.   NEUROLOGY INDIA

Identification, Tissue Distribution, and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-Epimerase/ManNAc Kinase

(2011) Tal Yardeni et al.   BIOCHEMISTRY

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis

(2009) Stefan O. Reinke et al.   BIOLOGICAL CHEMISTRY

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model

(2009) May Christine V Malicdan et al.   NATURE MEDICINE

Biochemical characterization of human and murine isoforms of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)

(2008) Stefan O. Reinke et al.   GLYCOCONJUGATE JOURNAL