Results 171 to 180 of about 1,629 (185)

Sialylation-increasing therapies for GNE myopathy

Neuromuscular Disorders, 2016
M. Huizing, M. Malicdan, H. Khatami, N. Carrillo, W. Gahl   +4 more
openaire   +1 more source

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Brain, 2014
Takahiro Yonekawa, Yukiko K Hayashi, Anna Cho   +2 more
exaly  

Disease Progression of GNE Myopathy (P2.046)

Neurology, 2015
Melanie Quintana, Joseph Shrader, Galen Joe, Mark Fitzgerald, William Gahl, John McKew, Scott Berry, Nuria Carrillo-Carrasco   +7 more
openaire   +1 more source

The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant

Molecular Neurobiology, 2016
Stella Mitrani-Rosenbaum
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, May Christine V Malicdan   +2 more
exaly  

GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis

Molecular Neurobiology, 2015
Reema Singh, Ranjana Arya
exaly  

International GNE Myopathy Patient Registry

Case Medical Research, 2019
openaire   +1 more source

Therapeutic development of ManNAc for GNE myopathy

Neuromuscular Disorders, 2016
N. Carrillo, M. Huizing, M. Quintana, C. Slota, M. Malicdan, H. Khatami, S. Berry, W. Gahl   +7 more
openaire   +1 more source

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptor and Signal Transduction Research, 2015
Stella Mitrani-Rosenbaum
exaly  

Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale

Journal of Comparative Effectiveness Research, 2018
Alice Turnbull
exaly