Results 141 to 150 of about 1,067 (171)

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

Journal of Comparative Effectiveness Research, 2018
Aim: GNE myopathy, a rare, severe, progressive myopathy, presents with lower extremity distal muscle weakness. The GNE myopathy functional activity scale (GNEM-FAS) evaluates the impact of GNE myopathy on functioning in adults ...
Rob Arbuckle, Alice Turnbull, Alison Skrinar   +2 more
exaly   +2 more sources

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

Muscle and Nerve, 2018
\ua9 2018 Wiley Periodicals, Inc. Introduction: GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle.
Hadil Alrohaif, Oksana Pogoryelova, Andoni Urtizberea   +2 more
exaly   +1 more source

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Novel GNE compound heterozygous mutations in a GNE myopathy patient

Muscle & Nerve, 2013
ABSTRACTIntroduction: Molecular studies have revealed that some patients with myopathies with rimmed vacuoles have pathogenic mutations in the UDP‐N‐acetylglucosamine‐2‐epimerase/N‐acetylmannosamine kinase (GNE) and Z‐band alternatively spliced PDZ motif‐containing protein (ZASP) genes.
Huaying, Cai, Ichiro, Yabe, Shinichi, Shirai, Hiroaki, Nishimura, Makoto, Hirotani, Takahiro, Kano, Hideki, Houzen, Kazuto, Yoshida, Hidenao, Sasaki   +8 more
openaire   +2 more sources

Bayesian model of disease progression in GNE myopathy

Statistics in Medicine, 2018
One Sentence Summary: A Bayesian repeated measures model based on quantitative muscle strength data from a prospective Natural History Study was developed to determine disease progression and design clinical trials for GNE myopathy, a rare and slowly progressive muscle disease.GNE myopathy is a rare muscle disease characterized by slowly progressive ...
M. Quintana, J. Shrader, C. Slota, G. Joe, J.C. McKew, M. Fitzgerald, W.A. Gahl, S. Berry, N. Carrillo   +8 more
openaire   +3 more sources

[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

[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

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

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