Results 171 to 180 of about 2,519,227 (189)

Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

Journal of Gene Medicine, 2010
Nancy Templeton, Marjan Huizing, Neil Senzer   +2 more
exaly  

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

Neuromuscular Disorders, 2023
openaire   +1 more source

Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles

Journal of Human Genetics, 2006
Young-Chul Choi, Chang-Seok Ki, Byoung Joon Kim   +2 more
exaly  

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

Neuromuscular Disorders, 2016
G. Diniz, Y. Secil, S. Ceylaner, F. Tokucoglu, S. Ture, M. Celebisoy, T. Kurt Incesu, G. Akhan   +7 more
openaire   +1 more source

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

Journal of Human Genetics, 2002
Tatsuya Kishino, Naomichi Matsumoto, Tohru Ohta   +2 more
exaly  

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations

Journal of the Neurological Sciences, 2012
Satoru Noguchi, Naoki Suzuki, Ichizo Nishino   +2 more
exaly  

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

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family

Clinical Neurology and Neurosurgery, 2007
Tu Hsueh Yeh, Hung-Chou Kuo, Long-Sun Ro
exaly  

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy

Muscle and Nerve, 2003
Maurizio Moggio, Alessio Di Fonzo, Nereo Bresolin   +2 more
exaly  

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy

Journal of Cellular and Molecular Medicine, 2018
Pengzhi Hu, Lamei Yuan, Bingqi Wang
exaly