ReviewJournal of genetics2018
Lafora disease: from genotype to phenotype.
Review in Journal of genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.Orphanet journal of rare diseases · 2023Pooled it
- Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Inactivation of Laforin Phosphatase and Increased Glucose Uptake Underlie Glycogen Synthase-Mediated Neuronal Survival Under Oxidative Stress.Molecular neurobiology · 2025Article
- Neuromuscular junction dysfunction in Lafora disease.Disease models & mechanisms · 2024Article
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Journal of biosciences · 2024Review
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder.Frontiers in neurology · 2023Article
- Glial Contributions to Lafora Disease: A Systematic Review.Biomedicines · 2022Review
- Age-Dependent Reduction in the Expression Levels of Genes Involved in Progressive Myoclonus Epilepsy Correlates with Increased Neuroinflammation and Seizure Susceptibility in Mouse Models.Molecular neurobiology · 2022Article
- Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022Article
- Alterations in brain glycogen levels influence life-history traits and reduce the lifespan in female Drosophila melanogaster.Biology open · 2021Article
- Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.Molecular cytogenetics · 2021Article
- Trehalose Ameliorates Seizure Susceptibility in Lafora Disease Mouse Models by Suppressing Neuroinflammation and Endoplasmic Reticulum Stress.Molecular neurobiology · 2021Article
- Glycogen: the missing link in neuronal autophagy?Autophagy · 2020Review
- Drug Treatment of Progressive Myoclonic Epilepsy.Paediatric drugs · 2020Review
- Frontal Hypoperfusion and the Effectiveness of Perampanel in Long-Lived Patient with Lafora Disease.Case reports in neurologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The progressive myoclonic epilepsy of Lafora or Lafora disease (LD) is a neurodegenerative disorder characterized by recurrent seizures and cognitive deficits. With typical onset in the late childhood or early adolescence, the patients show progressive worsening of the disease symptoms, leading to death in about 10 years. It is an autosomal recessive disorder caused by the loss-of-function mutations in the
Indexed as
Identifiers
30027899W2883533405What 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.