Results 151 to 160 of about 1,200 (179)

[GNE myopathy].

Medecine sciences : M/S, 2016
GNE myopathy is a rare neuromuscular disease whose description is fairly recent. It predominantly affects the adult population and is an inherited autosomal recessive disorder. Although universal and ubiquitous, GNE myopathy prevails in the Jewish community of Persian origin, living in Iran, Israel or in the United States.
J Andoni, Urtizberea, Anthony, Béhin
openaire   +1 more source

Clinical, genetic, and pathological characterization of GNE myopathy in China

Neurological Sciences, 2022
GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports.
Xiao-Qing, Lv, Ling, Xu, Peng-Fei, Lin, Chuan-Zhu, Yan   +3 more
openaire   +2 more sources

Molecular genetics and therapeutic development for GNE myopathy

Journal of Human Genetics
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter ...
Wakako Yoshioka, Satoru Noguchi, Ichizo Nishino   +2 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

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 AS A DIFFERENTIAL DIAGNOSIS OF POLYMYOSITIS

XXXIX Congresso Brasileiro de Reumatologia, 2022
Adrio Luís Gonçalves de Lima, Natalia Sarzi Sartori, Rafael Mendonça da Silva Chakr, Andrese Aline Gasparin, Nicole Pamplona Bueno de Andrade, Vanessa Hax, Mariana Maschio dos Santos, André Lucas Ribeiro, Larissa Martinelli Dullius, Joana Mattioni Ourique, Ana Paula Radünz Vieira, Mariana Jeck Gomes   +11 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

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