Results 181 to 190 of about 5,472 (195)
Some of the next articles are maybe not open access.

Phenotypic variability of GNE myopathy

Journal of the Neurological Sciences, 2019
N. Al Talai   +2 more
openaire   +1 more source

Aberrant O‐GlcNAcylation disrupts GNE enzyme activity in GNE myopathy

FEBS Journal, 2016
Wenke Weidemann, Rüdiger Horstkorte
exaly  

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

Molecular Genetics & Genomic Medicine, 2017
Joshi Stephen   +2 more
exaly  

Variable Phenotypes of Knockin Mice Carrying the M712T Gne Mutation

NeuroMolecular Medicine, 2012
Zohar Argov   +2 more
exaly  

ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy

Neuromuscular Disorders, 2016
T. Gidaro   +11 more
openaire   +1 more source

Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery

Neuromuscular Disorders, 2012
Stella Mitrani-Rosenbaum   +2 more
exaly  

Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts

Journal of Receptor and Signal Transduction Research, 2015
Avi Harazi, Menachem Sadeh, Ron Dabby
exaly  

GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis

Molecular Neurobiology, 2015
Ranjana Arya, Arya Ranjana
exaly  

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