Results 161 to 170 of about 5,472 (195)

[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

Konservative GNE oder chirurgisch unterstützte GNE – ein Grenzfall

Informationen aus Orthodontie & Kieferorthopädie
Zusammenfassung Die transversale Erweiterung der Maxilla wird im Jugendalter häufig konservativ mit einer festsitzenden Gaumennahterweiterung (GNE) durchgeführt. Durch fortschreitende Obliteration der Sutura palatina mediana erfolgt die GNE nach Wachstumsende jedoch häufig ...
Tabea Glanz, Julia Camilla Bulski, Christina Erbe   +2 more
openaire   +1 more source

A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases

Gene
Distal myopathies are a group of rare heterogeneous diseases that are mostly caused by genetic factors. At least 20 genes have been associated with distal myopathies. We performed whole-exome sequencing to identify the genetic cause of disease in a family with distal myopathy.
Yufei Li, Wenwu Li, Baitong Fan, Yao Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun   +9 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

Glycogen accumulation in GNE myopathy

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

GNE: Generic Heterogeneous Information Network Embedding

2020
As an effective approach to solve graph mining problems, network embedding aims to learn low-dimensional latent representation of nodes in a network. We develop a representation learning method called GNE for generic heterogeneous information networks to learn the vertex representations for generic HINs. Greatly different from previous works, our model
Chao Kong, Bao-Xiang Chen, Shaoying Li, Yifan Chen, Jiahui Chen, Liping Zhang   +5 more
openaire   +1 more source

Longitudinal study for GNE gene (ClinBio-GNE)

Neuromuscular Disorders, 2015
T. Gidaro, D. Duchene, G. Ollivier, V. Decostre, J.Y. Hogrel, P. Carlier, A. Behin, L. Servais   +7 more
openaire   +1 more source

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

GNE Myopathy

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

[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