ReviewInternational journal of molecular sciences2017
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.
Review in International journal of molecular sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 68 citations in OpenAlex.
- Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- FDG-PET assessment and metabolic patterns in Lafora disease.European journal of nuclear medicine and molecular imaging · 2020Pooled it
- When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- An astrocytic cellular model of Lafora disease to study polyglucosan accumulation and inflammation.Disease models & mechanisms · 2026Article
- Adeno-Associated Virus-Based Gene Therapy for Lafora Disease inInternational journal of molecular sciences · 2025Article
- Advances in gene therapy for Lafora disease: Intravenous recombinant adeno-associated virus-mediated delivery of EPM2A and EPM2B genes.Clinical and translational medicine · 2025Article
- Neuromuscular junction dysfunction in Lafora disease.Disease models & mechanisms · 2024Article
- Gene therapy for Lafora disease in the Epm2aMolecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.JCI insight · 2024Article
- Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.Cells · 2023Review
- Glial Contributions to Lafora Disease: A Systematic Review.Biomedicines · 2022Review
- In situ mass spectrometry imaging reveals heterogeneous glycogen stores in human normal and cancerous tissues.EMBO molecular medicine · 2022Article
- Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.Brain : a journal of neurology · 2022Article
- Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Animals : an open access journal from MDPI · 2022Article
- Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022Article
- Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Lafora disease: Current biology and therapeutic approaches.Revue neurologique · 2022Review
- Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.Brain : a journal of neurology · 2021Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 4 countries.
Funding
Abstract
Lafora disease (LD, OMIM #254780) is a rare, recessively inherited neurodegenerative disease with adolescent onset, resulting in progressive myoclonus epilepsy which is fatal usually within ten years of symptom onset. The disease is caused by loss-of-function mutations in either of the two genes
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.