Associated Papers
Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease Type IV.
Choi SJ et al.
The American Journal of Pathology, 2025
Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation.
Taylor A et al.
Molecular Genetics and Metabolism, 2025
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
Fogel BL et al.
Annals of Neurology, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Adult polyglucosan body disease: ultrarare but commonly misdiagnosed.
Caiza-Zambrano F et al.
Practical Neurology, 2025
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
Thomas R et al.
Nucleic Acids Research, 2025
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
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.
Genís D et al.
Journal of Neurology, 2025
Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.
Nitschke S et al.
The Embo Journal, 2025
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.
Zhu J et al.
Frontiers in Genetics, 2025
Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China.
Chen Y et al.
Genes & Diseases, 2024
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL et al.
Jci Insight, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.
Mitra S et al.
Acta Neuropathologica, 2024
Gene therapy for glycogen storage diseases.
Koeberl DD et al.
Journal of Inherited Metabolic Disease, 2024
Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.
Duran J
Cells, 2023
Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation.
Uemura MT et al.
Neuropathology and Applied Neurobiology, 2023
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Mitra S et al.
Disease Models & Mechanisms, 2023
Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.
Abraham JR et al.
Frontiers in Neurology, 2023
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls.
Gayed MM et al.
Frontiers in Genetics, 2023
Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.
Johal J et al.
Hospital Practice (1995), 2022
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Nitschke S et al.
Brain : a Journal of Neurology, 2022
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Fanjul-Fernández M et al.
Human Mutation, 2022
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
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
The potential of dietary treatment in patients with glycogen storage disease type IV.
Derks TGJ et al.
Journal of Inherited Metabolic Disease, 2021
251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.
Laforêt P et al.
Neuromuscular Disorders : Nmd, 2021
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease.
Chown EE et al.
Annals of Clinical and Translational Neurology, 2020
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Ichimoto K et al.
Molecular Genetics and Metabolism Reports, 2020
Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.
Lyo S et al.
European Heart Journal. Case Reports, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.
Gentry MS et al.
Epilepsy & Behavior : E&b, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Update on polyglucosan storage diseases.
Cenacchi G et al.
Virchows Archiv : an International Journal of Pathology, 2019
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Sullivan MA et al.
Cell Reports, 2019
Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.
Iijima H et al.
Molecular Genetics and Metabolism Reports, 2018
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
The spectrum of adult-onset heritable white-matter disorders.
Helman G et al.
Handbook of Clinical Neurology, 2018
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS et al.
Journal of the Neurological Sciences, 2017
Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy.
Alvarez R et al.
Journal of Lipid Research, 2017
Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.
Harigaya Y et al.
Neurology. Genetics, 2017
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.
Yi H et al.
Molecular Genetics and Metabolism Reports, 2016
A novel GBE1 gene variant in a child with glycogen storage disease type IV.
Said SM et al.
Human Pathology, 2016
From structural biology to designing therapy for inborn errors of metabolism.
Yue WW
Journal of Inherited Metabolic Disease, 2016