Results 171 to 180 of about 1,995 (205)

A case of GNE myopathy mimicking hereditary motor neuropathy

European Journal of Neurology, 2020
A 36‐year‐old woman who presented with upper limb distal weakness since the age of 15 years, with gradual progression to the lower limbs, is reported. Hereditary motor neuropathy was initially suspected based on distal weakness and hyporeflexia; however, whole exome sequencing accidentally revealed a compound heterozygous variant in the GNE gene, and ...
Y.‐N. Huang, H.‐J. Chuang, H.‐W. Hsueh, H.‐C. Huang, N.‐C. Lee, C.‐C. Chao, P.‐H. Huang, Y.‐C. Lee, K.‐P. Lin, C.‐C. Yang, S.‐T. Hsieh   +10 more
openaire   +2 more sources

[Therapeutic development for GNE myopathy.]

Clinical calcium, 2017
GNE myopathy is rare muscle disease which affect distal muscles. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. GNE myopathy model mouse was established
Naoki, Suzuki, Rumiko, Izumi, Masaaki, Kato, Hitoshi, Warita, Masashi, Aoki   +4 more
openaire   +1 more source

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptors and Signal Transduction, 2014
GNE Myopathy (GNEM) is a neuromuscular disorder caused by mutations in the GNE gene. It is a slowly progressive distal and proximal muscle weakness sparing the quadriceps. In this study, we applied our model of mutated M743T GNE enzyme skeletal muscle-cultured myoblasts and paired healthy controls to depict the pattern of signaling proteins controlling
Avi, Harazi, Malka, Chaouat, Zippora, Shlomai, Robina, Levitzki, Michal, Becker-Cohen, Menachem, Sadeh, Ron, Dabby, Hannah, Ben-Bassat, Stella, Mitrani-Rosenbaum   +8 more
openaire   +2 more sources

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

International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative

Nature Reviews Rheumatology, 2023
Alexander G S Oldroyd Mbchb, Hector Chinoy, Lorinda Chung   +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