Results 191 to 195 of about 5,472 (195)

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

Glycoconjugate Journal, 2008
Stephan Hinderlich, Hinderlich Stephan
exaly  

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy

Journal of Cellular and Molecular Medicine, 2018
Yuan Wu, Lamei Yuan, Hongbo Xu
exaly  

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

Journal of the Neurological Sciences, 2012
Madoka Mori-Yoshimura, Naoki Suzuki, Toshihide Kumamoto   +2 more
exaly  

GNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Neuromuscular Disorders, 2014
Tetsuya Niihori, Naoki Suzuki, Yoji Sasahara   +2 more
exaly  

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

Neuromuscular Disorders, 2018
Oksana Pogoryelova, Ichizo Nishino, Alison Skrinar   +2 more
exaly