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Lafora disease

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Lafora disease" returned 11 free, full-text review articles. First few results:
[Lafora disease: a review of the literature].
Last Updated: Apr 20, 2020

Lafora disease is autosomal recessive progressive myoclonus epilepsy with late childhood-to teenage-onset caused by loss-of-function mutations in either EPM2A or EPM2B genes encoding laforin or malin, respectively.

Lafora Disease: A Review of Molecular Mechanisms and Pathology.
Last Updated: Feb 25, 2020

Lafora's disease is a neurodegenerative disorder caused by recessive loss-of-function mutations in the (laforin glycogen phosphatase) or (malin E3 ubiquitin ligase) genes. Neuropathology is characterized by malformed precipitated glycogen aggregates termed Lafora bodies. Asymptomatic ...

Lafora disease - from pathogenesis to treatment strategies.
Last Updated: Mar 09, 2020

Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The disease usually manifests in previously healthy adolescents, and death commonly occurs within 10 years of symptom onset. Lafora disease is caused by loss-of-function mutations in EPM2A or NHLRC1, ...

Full PubMed Review articles matches at NCBI:
11 Free Review Articles 16 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Lafora disease" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Lafora disease" returned 61 free, full-text research articles. First few results:
Pathologic Confirmation of Lafora Disease.
Last Updated: Aug 10, 2020

Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
Last Updated: Apr 20, 2020

Lafora progressive myoclonus epilepsy is a fatal rare neurodegenerative disorder characterized by the accumulation of insoluble abnormal glycogen deposits in the brain and peripheral tissues. Mutations in at least two genes are responsible for the disease: EPM2A, encoding the glucan ...

Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.
Last Updated: Oct 01, 2020

Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. A hallmark of LD is the intracellular accumulation of insoluble polysaccharide deposits known as Lafora bodies (LBs) in the brain and other tissues. In LD mouse models, ...

Full PubMed Research articles matches at NCBI:
61 Free Research Articles 131 Research Articles