# Glycogen Storage Diseases and Myoclonus

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/glycogen-storage-diseases-and-myoclonus/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on the metabolism of glycogen, particularly in the context of myoclonic disorders such as progressive myoclonus epilepsy and glycogen storage diseases. It explores genetic mutations, neurodegeneration, and the role of the glucose-6-phosphatase system in these conditions, shedding light on diagnosis, management, and potential therapeutic aspects. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t12604 |
| Works | 110 |

## Topic papers all

Showing 15 of 110.

- [Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease](https://scholariq.org/papers/multicenter-analysis-of-glucocerebrosidase-mutations-in-parkinson-s-disease/)
- [Consensus Statement on the classification of tremors. from the task force on tremor of the International Parkinson and Movement Disorder Society](https://scholariq.org/papers/consensus-statement-on-the-classification-of-tremors-from-the-task-force-on/)
- [Enzyme Replacement Therapy in Fabry Disease](https://scholariq.org/papers/enzyme-replacement-therapy-in-fabry-disease/)
- [How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor](https://scholariq.org/papers/how-common-is-the-most-common-adult-movement-disorder-update-on-the-worldwide/)
- [Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group](https://scholariq.org/papers/optimal-clinical-management-of-children-receiving-dietary-therapies-for-epilepsy/)
- [Fabry disease revisited: Management and treatment recommendations for adult patients](https://scholariq.org/papers/fabry-disease-revisited-management-and-treatment-recommendations-for-adult/)
- [Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease](https://scholariq.org/papers/tolvaptan-in-later-stage-autosomal-dominant-polycystic-kidney-disease/)
- [Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group](https://scholariq.org/papers/optimal-clinical-management-of-children-receiving-the-ketogenic-diet/)
- [Pedunculopontine Nucleus Region Deep Brain Stimulation in Parkinson Disease: Surgical Anatomy and Terminology](https://scholariq.org/papers/pedunculopontine-nucleus-region-deep-brain-stimulation-in-parkinson-disease/)
- [Neuropathological changes in essential tremor: 33 cases compared with 21 controls](https://scholariq.org/papers/neuropathological-changes-in-essential-tremor-33-cases-compared-with-21-controls/)
- [Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat](https://scholariq.org/papers/treatment-of-fabry-s-disease-with-the-pharmacologic-chaperone-migalastat/)
- [Radioactive method for the assay of glycogen phosphorylases](https://scholariq.org/papers/radioactive-method-for-the-assay-of-glycogen-phosphorylases/)
- [Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study](https://scholariq.org/papers/oral-pharmacological-chaperone-migalastat-compared-with-enzyme-replacement/)
- [Practice Parameter: Therapies for essential tremor \[RETIRED\]](https://scholariq.org/papers/practice-parameter-therapies-for-essential-tremor-retired/)
- [Long-Term Clinical Effects of Epalrestat, an Aldose Reductase Inhibitor, on Diabetic Peripheral Neuropathy](https://scholariq.org/papers/long-term-clinical-effects-of-epalrestat-an-aldose-reductase-inhibitor-on/)

## Topic primary papers

Showing 15 of 18.

- [A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy](https://scholariq.org/papers/a-recurrent-de-novo-mutation-in-kcnc1-causes-progressive-myoclonus-epilepsy/)
- [Clinical picture of EPM1‐Unverricht‐Lundborg disease](https://scholariq.org/papers/clinical-picture-of-epm1-unverricht-lundborg-disease/)
- [Glucose Regulates in Vivo Glucose-6-phosphatase Gene Expression in the Liver of Diabetic Rats](https://scholariq.org/papers/glucose-regulates-in-vivo-glucose-6-phosphatase-gene-expression-in-the-liver-of/)
- [Sleep organization and epilepsy.](https://scholariq.org/papers/sleep-organization-and-epilepsy/)
- [Defining the phenotypic spectrum of <i>SLC6A1</i> mutations](https://scholariq.org/papers/defining-the-phenotypic-spectrum-of-i-slc6a1-i-mutations/)
- [Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1](https://scholariq.org/papers/polyglucosan-body-myopathy-caused-by-defective-ubiquitin-ligase-rbck1/)
- [Phenotypic spectrum of <i>GABRA1</i>](https://scholariq.org/papers/phenotypic-spectrum-of-i-gabra1-i/)
- [Propriospinal myoclonus revisited](https://scholariq.org/papers/propriospinal-myoclonus-revisited/)
- [Botulinum toxin is effective and safe for palatal tremor](https://scholariq.org/papers/botulinum-toxin-is-effective-and-safe-for-palatal-tremor/)
- [Risk of epilepsy in type 1 diabetes mellitus: a population-based cohort study](https://scholariq.org/papers/risk-of-epilepsy-in-type-1-diabetes-mellitus-a-population-based-cohort-study/)
- [Molecular Structure of Glycogen in <i>Escherichia coli</i>](https://scholariq.org/papers/molecular-structure-of-glycogen-in-i-escherichia-coli-i/)
- [Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder](https://scholariq.org/papers/glycogen-storage-disease-type-iv-novel-mutations-and-molecular-characterization/)
- [Glycogen Storage Disease Type III](https://scholariq.org/papers/glycogen-storage-disease-type-iii/)
- [Gluconeogenesis from glutamine and lactate in the isolated humanrenal proximal tubule: longitudinal heterogeneity and lack of response to adrenaline](https://scholariq.org/papers/gluconeogenesis-from-glutamine-and-lactate-in-the-isolated-humanrenal-proximal/)
- [Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements](https://scholariq.org/papers/sleep-in-adcy5-related-dyskinesia-prolonged-awakenings-caused-by-abnormal/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.