Results 171 to 179 of about 1,200 (179)

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptor and Signal Transduction Research, 2015
Stella Mitrani-Rosenbaum, Avi Harazi, Hannah Ben-Bassat   +2 more
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  

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

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  

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

Journal of Comparative Effectiveness Research, 2018
Alice Turnbull, Nicola Bonner, Rob Arbuckle   +2 more
exaly  

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

Muscle and Nerve, 2018
Hadil Alrohaif, Hanns Lochmüller
exaly  

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
Kenjiro Ono, Ichizo Nishino, Tsuyoshi Hamaguchi   +2 more
exaly  

International GNE Myopathy Patient Registry

Case Medical Research, 2019
openaire   +1 more source