Results 161 to 170 of about 1,629 (185)

Glycogen accumulation in GNE myopathy

Neuromuscular Disorders, 2022
Andre Granger, Marcus V Pinto, Margherita Milone, Teerin Liewluck   +3 more
openaire   +2 more sources

GNE myopathy in Chinese population: hotspot and novel mutations

Journal of Human Genetics, 2018
GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles of 46 GNE patients.
Yang Chen, Jianying Xi, Wenhua Zhu, Jie Lin, Sushan Luo, Dongyue Yue, Shuang Cai, Chong Sun, Chongbo Zhao, Satomi Mitsuhashi, Ichizo Nishino, Minjie Xu, Jiahong Lu   +12 more
openaire   +2 more sources

GNE Myopathy

2023
Zohar Argov, Stella Mitrani-Rosenbaum
openaire   +1 more source

GNE myopathy: genotypic and phenotypic variability

Association of British Neurologists: Annual Meeting Abstracts 2023, 2023
Dudley Alex, Kennelly Laura, Connolly Sean, Mc Guigan Christopher   +3 more
openaire   +1 more source

Phenotypic variability of GNE myopathy

Journal of the Neurological Sciences, 2019
N. Al Talai, P. Sarathchandran, A.B. Al Madani   +2 more
openaire   +1 more source

Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors

Biomaterials, 2022
Ju-Chan Park, Jumee Kim, Hyeon-Ki Jang
exaly  

eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy

Genetics in Medicine, 2022
Jessica Jang, Marjan Huizing, Andrea Bowling, Caitlin Yuan, Nuria Carrillo, William Gahl, Francis Rossignol   +6 more
openaire   +1 more source

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

Clinical Neurology and Neurosurgery, 2022
Wakako Yoshioka, Ichizo Nishino, Madoka Mori-Yoshimura   +2 more
exaly  

Glycogen Accumulation in GNE Myopathy (P16-13.008)

Neurology, 2022
Andre Granger, Margherita Milone, Marcus Vinicius Pinto, Teerin Liewluck   +3 more
openaire   +1 more source

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