• A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1
• A United States-based patient-reported adult polyglucosan body disease registry: initial results
• AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
• Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation
• Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
• Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism
• Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
• Case 318: Adult Polyglucosan Body Disease
• Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
• Characterization of cognitive impairment in adult polyglucosan body disease
• Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China
• Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease
• Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource
• Distinct features in adult polyglucosan body disease: a case series
• Editorial: Inborn errors of carbohydrate metabolism
• First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B
• Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency
• Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
• Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (<em>Alces alces</em>) Presenting with Signs of Blindness and Circling
• Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects &lt; 5 years with mucopolysaccharidosis VII
• Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses
• Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease
• Novel brain MRI clues to diagnose adult polyglucosan body disease - a commentary
• Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation
• Polyglucosan body density in the aged mouse hippocampus is controlled by a novel modifier locus on chromosome 1
• Polyglucosan body disease in an aged chimpanzee (Pan troglodytes)
• Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder
• Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle
• Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders
• Spastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease
• Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
• The multifaceted roles of the brain glycogen
• Two Diseases-One Preclinical Treatment Targeting Glycogen Synthesis