Results 121 to 130 of about 26,442 (131)

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  

Atypical presentation of GNE myopathy with asymmetric hand weakness

Neuromuscular Disorders, 2014
Joseph Shrader, William A Gahl
exaly  

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptor and Signal Transduction Research, 2015
Stella Mitrani-Rosenbaum, Menachem Sadeh, Avi Harazi   +2 more
exaly  

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Brain, 2014
Satoru Noguchi, Anna Cho, Ichizo Nishino
exaly  

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

Neuromuscular Disorders, 2013
Satoru Noguchi, Ichizo Nishino, Yukiko Hayashi   +2 more
exaly  

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

Molecular Genetics & Genomic Medicine, 2017
Joseph Shrader, Prashant Chittiboina, John Heiss   +2 more
exaly  

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

Muscle and Nerve, 2018
Hadil Alrohaif, Hanns Lochmüller, Oksana Pogoryelova   +2 more
exaly  

Granuloma formation in a patient with GNE myopathy: A case report

Neuromuscular Disorders, 2017
Kenjiro Ono, Ichizo Nishino, Tsuyoshi Hamaguchi   +2 more
exaly  

GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis

Molecular Neurobiology, 2015
Ranjana Arya
exaly  

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

Neuromuscular Disorders, 2014
Hitoshi Warita, Naoki Suzuki, Tetsuya Niihori   +2 more
exaly