Results 151 to 160 of about 1,067 (171)

GNE Myopathy

2023
Zohar Argov, Stella Mitrani-Rosenbaum
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 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

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

Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

Clinical Neurology and Neurosurgery, 2022
Wakako Yoshioka, Reiko Shimizu, Yuji Takahashi   +2 more
exaly  

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

Mutation Update forGNEGene Variants Associated with GNE Myopathy

Human Mutation, 2014
Frank Celeste, Thierry Vilboux, Carla Ciccone   +2 more
exaly  

The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant

Molecular Neurobiology, 2016
Avi Harazi, Stephan Hinderlich, Stella Mitrani-Rosenbaum   +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
Madoka Mori-Yoshimura, Naoki Suzuki, Toshihide Kumamoto   +2 more
exaly  

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Brain, 2014
Takahiro Yonekawa, May Christine V Malicdan, Anna Cho   +2 more
exaly