Associated Papers
Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.
Visuttijai K et al.
Neuropathology and Applied Neurobiology, 2024
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.
Visuttijai K et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.
Ben Yaou R et al.
Neurology. Genetics, 2017
GYG1 gene mutations in a family with polyglucosan body myopathy.
Fanin M et al.
Neurology. Genetics, 2015
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E et al.
Annals of Neurology, 2014
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