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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 10 free, full-text review articles. First few results:
Lafora Disease: A Review of Molecular Mechanisms and Pathology.
Last Updated: Oct 22, 2019

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: Aug 28, 2019

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, ...

Lafora disease: from genotype to phenotype.
Last Updated: Nov 14, 2018

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, ...

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10 Free Review Articles 15 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 55 free, full-text research articles. First few results:
A novel EPM2A mutation yields a slow progression form of Lafora disease.
Last Updated: Sep 01, 2019

Lafora disease (LD, OMIM 254780) is a rare disorder characterized by epilepsy and neurodegeneration leading patients to a vegetative state and death, usually within the first decade from the onset of the first symptoms. In the vast majority of cases LD is related to mutations in either ...

Degradation of altered mitochondria by autophagy is impaired in Lafora disease.
Last Updated: Jun 10, 2019

Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. LD is characterized by accumulation of a poorly branched form of glycogen in the cytoplasm of neurons and other cells. We previously reported dysfunctional ...

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55 Free Research Articles 125 Research Articles