GNE Myopathy: Two Clusters with History and Several Founder Mutations
, 2015 Zohar Argov, Stella Mitrani‐Rosenbaum
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Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy. [PDF]
MicroPubl BiolParker O +5 more
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Inclusion body myositis: pathomechanism and lessons from genetics [PDF]
, 2017 Bodoki, Levente +8 more
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GNE myopathy with thrombocytopenia: a case report and review of the literature
, 2021 Joshua Rim, Yuebing Li
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Neuromuscular Organoids Recapitulate Defective Autophagy in GNE Myopathy and Highlight Therapeutic Rescue by PI3K Inhibition [PDF]
Hyuk‐Jin Cha +4 more
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Erratum to: Progression of GNE Myopathy Based on the Patient-Reported Outcome. [PDF]
J Clin Neurol, 2020 Park YE, Kim DS, Choi YC, Shin JH.
europepmc +1 more source
Generation and Characterization of Skeletal Muscle Cell based Model for GNE Myopathy: Implications in Actin Dynamics [PDF]
, 2020 Shamulailatpam Shreedarshanee Devi +5 more
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Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients. [PDF]
Neurol GenetSun H +9 more
europepmc +1 more source
Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study. [PDF]
J Neurol Neurosurg PsychiatrySuzuki N +17 more
europepmc +1 more source
A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy. [PDF]
Medicine (Baltimore), 2020 Miao J, Wei XJ, Wang X, Yin X, Yu XF.
europepmc +1 more source