专题：Glycogen Storage Diseases and Myoclonus

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.
最新文献
Early Clinical and EEG Association of Genotype and Outcome in Genetic Epilepsies

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Liver exerkine reverses aging- and Alzheimer’s-related memory loss via vasculature

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Early-onset glycogenic hepatopathy in a child amidst the era of newer insulin analogs

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Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review

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Efgartigimod as an Add-on Therapy for Anti-IgLON5 Disease: A Case Report

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Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5 ‐Related Disorder

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Anaphase onset requires CKS-1–mediated destruction of securin in meiosis I and cyclin B1 in meiosis II

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Glycophagy is an ancient bilaterian pathway supporting metabolic adaptation through STBD1 structural evolution

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Considerations on the interpretation of pain-related analyses in genetic metabolic bone diseases

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Enzyme replacement therapy for CLN1 batten disease that crosses the blood-brain-barrier

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近5年高被引文献
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

review Full Text OpenAlex 126 FWCI14.9513

HOIL‐1 ubiquitin ligase activity targets unbranched glucosaccharides and is required to prevent polyglucosan accumulation

article Full Text OpenAlex 117 FWCI9.4579

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

review Full Text OpenAlex 114 FWCI13.2114

Metformin, phenformin, and galegine inhibit complex IV activity and reduce glycerol-derived gluconeogenesis

article Full Text OpenAlex 94 FWCI7.2936

Trial of N -Acetyl- l -Leucine in Niemann–Pick Disease Type C

article Full Text OpenAlex 84 FWCI27.6401

Origin and Roles of Alanine and Glutamine in Gluconeogenesis in the Liver, Kidneys, and Small Intestine under Physiological and Pathological Conditions

review Full Text OpenAlex 83 FWCI28.0514

Glycogen storage diseases

review Full Text OpenAlex 80 FWCI19.7705

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

article Full Text OpenAlex 78 FWCI7.7927

Glycogen storage diseases: An update

review Full Text OpenAlex 76 FWCI19.189

The clinical and electrophysiological investigation of tremor

review Full Text OpenAlex 76 FWCI9.2202