Results 161 to 170 of about 1,067 (171)

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

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

Development of a zebrafish model for GNE myopathy

Neuromuscular Disorders, 2016
H. Livne, A. Daya, M. Becker-Cohen, S. Mitrani-Rosenbaum   +3 more
openaire   +1 more source

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

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptor and Signal Transduction Research, 2015
Avi Harazi, Menachem Sadeh, Ron Dabby
exaly  

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

Neuromuscular Disorders, 2013
Madoka Mori-Yoshimura, Yasushi Oya, Yukiko K 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
Joshi Stephen, Carla Ciccone, Ralitza Gavrilova   +2 more
exaly  

Cardiac impairment in GNE myopathy (P2.063)

Neurology, 2015
Luhe Mian, May Christine Malicdan, Satoru Noguchi, William Gahl, Marjan Huizing   +4 more
openaire   +1 more source

GNE myopathy in a Chinese male with a novel homozygous mutation

Journal of Clinical Neuroscience, 2017
Wei Miaomiao
exaly  

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

Neuromuscular Disorders, 2017
Keiko Nakamura, Tsuyoshi Hamaguchi, Kenji Sakai   +2 more
exaly