Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.
Dugue AG et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2025
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Carvalho A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E et al.
Archives of Medical Science : Ams, 2018
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.
Harigaya Y et al.
Neurology. Genetics, 2017
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