Results 161 to 170 of about 1,200 (179)
Some of the next articles are maybe not open access.

Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

Clinical Neurology and Neurosurgery, 2022
Yuji Takahashi   +2 more
exaly  

Mutation Update forGNEGene Variants Associated with GNE Myopathy

Human Mutation, 2014
Frank Celeste   +2 more
exaly  

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   +2 more
exaly  

Disease Progression of GNE Myopathy (P2.046)

Neurology, 2015
Melanie Quintana   +7 more
openaire   +1 more source

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   +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   +2 more
exaly  

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Brain, 2014
Satoru Noguchi   +2 more
exaly  

Sialylation-increasing therapies for GNE myopathy

Neuromuscular Disorders, 2016
M. Huizing   +4 more
openaire   +1 more source

Therapeutic development of ManNAc for GNE myopathy

Neuromuscular Disorders, 2016
N. Carrillo   +7 more
openaire   +1 more source

Development of a zebrafish model for GNE myopathy

Neuromuscular Disorders, 2016
H. Livne   +3 more
openaire   +1 more source
humans
3. good health
distal myopathies
multienzyme complexes
mutation
muscle, skeletal
female
adult
gne
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