Adult Polyglucosan Body Disease Latest Advances

Disorders with prominent posterior fossa involvement.

Journal: Handbook of clinical neurology

Published: September 25, 2024

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: August 15, 2024

Editorial: Inborn errors of carbohydrate metabolism.

Journal: Frontiers in genetics

Published: May 09, 2024

Neurological glycogen storage diseases and emerging therapeutics.

Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Published: May 09, 2024

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Journal: The EMBO journal

Published: May 01, 2024

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Journal: Neuropathology : official journal of the Japanese Society of Neuropathology

Published: March 28, 2024

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Journal: Journal of the neurological sciences

Published: February 27, 2024

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Journal: Neuropathology and applied neurobiology

Published: January 29, 2024

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Journal: AJNR. American journal of neuroradiology

Published: November 29, 2023

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Journal: Acta neuropathologica

Published: November 23, 2023

Case 318: Adult Polyglucosan Body Disease.

Journal: Radiology

Published: October 31, 2023

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.

Journal: Frontiers in genetics

Published: August 24, 2023

Customize your search results with filters

Disorders with prominent posterior fossa involvement.

Disorders with prominent posterior fossa involvement.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease.

Editorial: Inborn errors of carbohydrate metabolism.

Editorial: Inborn errors of carbohydrate metabolism.

Neurological glycogen storage diseases and emerging therapeutics.

Neurological glycogen storage diseases and emerging therapeutics.

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body disease.

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Case 318: Adult Polyglucosan Body 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.

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.