Results 191 to 194 of about 6,315 (194)

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
Satoru Noguchi, Naoki Suzuki, Ichizo Nishino   +2 more
exaly  

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

Neuromuscular Disorders, 2014
Hitoshi Warita, Naoki Suzuki, Tetsuya Niihori   +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
Ichizo Nishino, Hanns Lochmüller, Hosein Shamshiri   +2 more
exaly  

Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis

NeuroMolecular Medicine, 2017
Ranjana Arya, Gayatri Padhy, Kalpana Bhargava   +2 more
exaly