Results 191 to 200 of about 15,103 (215)

[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].

Revue neurologique, 2008
Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. Among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene, often designated as Nonaka myopathy, primarily affect young adults and are characterized by ...
A, Béhin, O, Dubourg, P, Laforêt, C, Pêcheux, R, Bernard, N, Lévy, B, Eymard   +6 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

[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University, 2013
To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV).Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced.
Xiang-hui, Lu, Chuan-qiang, Pu, Qiang, Shi, Wen-jing, Luo, Ke, Li   +4 more
openaire   +1 more source

MicroRNA regulation of the GNE gene

Neuromuscular Disorders, 2016
I. Moshkovitz, M. Becker-Cohen, I. Eisenberg, S. Mitrani-Rosenbaum   +3 more
openaire   +1 more source

[Sequence of Escherichia coli O138 O-antigen gene cluster and gne identification by bioinformatics].

Wei sheng wu xue bao = Acta microbiologica Sinica, 2009
E. coli O138 is one of the enterotoxigenic Escherichia coli, causing the postweaning diarrhea and edema disease of weaned pigs. The O-antigen gene cluster of E. coli O138 was sequenced and found to contain the genes rmlB-DAC and gne, gna for the biosynthesis of nucleotide sugars dTDP-rhamnose and UDP-GalNAcA, respectively, genes encoding for O unit ...
Qing-Ke, Kong, Jian-Song, Cheng, Guang, Zhao, Lei, Wang, Hong-Jie, Guo   +4 more
openaire   +1 more source

Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics

Molecular Neurobiology, 2021
Shreedarshanee Shamulailatpam, Priyanka Chaudhary, Ranjana Arya   +2 more
exaly  

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Journal of Cellular and Molecular Medicine, 2021
Kai-Yue Zhang, Yue-Bei Luo, Fangfang Bi
exaly  

Clinical characteristics of spectrum of GNE gene mutations in Reunion-Island cohort.

Neuromuscular Disorders, 2017
Grigorashvili-Coin, I., Campech, M., Darcel, F., Jacquemont, M., Krahn, Martin, Cerino, Mathieu, Choumert, A.   +6 more
openaire   +2 more sources

P159 Lectin staining biomarkers for preclinical assessment of GNE myopathy gene therapy

Neuromuscular Disorders, 2023
openaire   +1 more source

Gene symbol: GNE. Disease: Inclusion body myopathy.

Human genetics, 2008
Bruno C, GRANDIS, MARINA, Cassandrini D, BELLONE, EMILIA, MANDICH, PAOLA, GULLI, ROSSELLA   +5 more
openaire   +2 more sources