Lafora disease: epidemiology, pathophysiology and management (Q33596336)

28 July 2017

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title

Lafora disease: epidemiology, pathophysiology and management (English)

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28 July 2017

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Thomas S Monaghan

1

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28 July 2017

Norman Delanty

series ordinal

2

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28 July 2017

language of work or name

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1 July 2010

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28 July 2017

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28 July 2017

24

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28 July 2017

7

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28 July 2017

549-561

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https://scigraph.springernature.com/pub.10.2165/11319250-000000000-00000

28 July 2017

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cites work

Late-onset Lafora's disease with typical intraneuronal inclusions.

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Nonepileptic visual hallucinations in Lafora disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Studies in myoclonus epilepsy. 3. The effects of amylolytic enzymes on the ultrastructure of Lafora bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Identification of new and common mutations in the EPM2A gene in Lafora disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Lafora disease due to EPM2B mutations: a clinical and genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Lafora's disease: peroxisomal storage in skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.2165%2F11319250-000000000-00000

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

21 January 2018

1 reference

12 December 2020

Longitudinal EEG studies in a kindred with Lafora disease.

1 reference

12 December 2020

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

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12 December 2020

Lafora bodies associated with neurologic signs in a cat.

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12 December 2020

The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system

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12 December 2020

[Non-convulsive epileptic status associated with Lafora disease: two case reports]

1 reference

12 December 2020

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease

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12 December 2020

Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.

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12 December 2020

MR spectroscopy findings in Lafora disease

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12 December 2020

Fixation-sensitive myoclonus in Lafora disease.

1 reference

12 December 2020

[Lafora disease and founder effect in a small neotropical locality]

1 reference

12 December 2020

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

1 reference

12 December 2020

Glucose metabolism evaluated by positron emission tomography in Lafora disease

1 reference

12 December 2020

Lafora body-like inclusions in a case of progressive myoclonic ataxia associated with coeliac disease

1 reference

12 December 2020

Lafora disease and congenital generalized lipodystrophy: a case report.

1 reference

12 December 2020

Uncommon types of polyglucosan bodies in the human brain: distribution and relation to disease.

1 reference

12 December 2020

Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo

1 reference

12 December 2020

Absence of clinical or physiological changes during short-term cerebellar stimulation in a patient with Lafora body disease

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12 December 2020

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

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12 December 2020

Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease

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12 December 2020

Comparative study of intraneuronal polyglucosan bodies in brains from patients with Lafora disease and aged dogs

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12 December 2020

Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus

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12 December 2020

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

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12 December 2020

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes

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12 December 2020

Lafora disease: Liver histopathology in presymptomatic children

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12 December 2020

Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan

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12 December 2020

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

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12 December 2020

Lafora disease: spectroscopy study correlated with neuropsychological findings.

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12 December 2020

Selective presence of ubiquitin in intracellular inclusions

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12 December 2020

Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment

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12 December 2020

Glycogen metabolism in tissues from a mouse model of Lafora disease

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12 December 2020

Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature

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12 December 2020

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

1 reference

12 December 2020

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

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12 December 2020

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

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12 December 2020

Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

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12 December 2020

Lafora-like ground-glass inclusions in hepatocytes of pediatric patients: a report of two cases

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12 December 2020

Polyglucosan bodies in the brain of the cat

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12 December 2020

Surprises of genetic engineering: a possible model of polyglucosan body disease

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12 December 2020

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

1 reference

12 December 2020

[Progressive study of EEG and evoked potentials in Lafora disease]

1 reference

12 December 2020

Myoclonic epilepsy of Lafora and arylsulphatase A deficiency in the same patient

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12 December 2020

Polyglucosan storage disease in a dog resembling Lafora's disease

1 reference

12 December 2020

Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.

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12 December 2020

An unusual case of Lafora body disease.

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12 December 2020

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

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12 December 2020

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin

1 reference

12 December 2020

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

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12 December 2020

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

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12 December 2020

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

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12 December 2020

Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies

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12 December 2020

The maestro don Gonzalo Rodríguez-Lafora

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12 December 2020

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

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12 December 2020

Recent data on Lafora disease. Apropos of 17 cases

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12 December 2020

Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.

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12 December 2020

Movement-activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG–EMG relationship estimated using autoregressive models

1 reference

12 December 2020

[Late discovery of Lafora disease: a family study]

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12 December 2020

22-year-old girl with status epilepticus and progressive neurological symptoms

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12 December 2020

Lafora's disease in an epileptic Basset hound

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12 December 2020

Subcutaneous midazolam infusion and Lafora disease

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12 December 2020

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

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12 December 2020

Lafora disease: insights into neurodegeneration from plant metabolism

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12 December 2020

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

1 reference

12 December 2020

Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy

1 reference

12 December 2020

Lafora disease: Diagnosis by liver biopsy

1 reference

12 December 2020

Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment

1 reference

12 December 2020

Lafora disease (progressive myoclonic epilepsy) in the Bassett hound--possibility of early diagnosis using muscle biopsy?

1 reference

12 December 2020

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

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12 December 2020

Progressive myoclonus epilepsy in a beagle.

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12 December 2020

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

12 December 2020

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

1 reference

12 December 2020

A pilot study of a ketogenic diet in patients with Lafora body disease.

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12 December 2020

Regional and developmental expression of Epm2a gene and its evolutionary conservation

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12 December 2020

Lafora disease: a quantitative morphological and biochemical study of the cerebral cortex.

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12 December 2020

Escherichia coli expression, refolding and characterization of human laforin

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12 December 2020

[Lafora's disease: a possible diagnosis of juvenile dementia]

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12 December 2020

[Cerebral blood flow and metabolism in Lafora disease]

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12 December 2020

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

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12 December 2020

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12 December 2020

Brainstem auditory evoked responses in Lafora disease.

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12 December 2020

Lack of efficacy and potential aggravation of myoclonus with lamotrigine in Unverricht-Lundborg disease

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12 December 2020

Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease

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12 December 2020

Lafora disease as a cause of visually exacerbated myoclonic attacks in a dog.

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12 December 2020

Posterior paroxysmal discharge: an aid to early diagnosis in Lafora disease

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12 December 2020

Mechanisms of unexpected and/or sudden death in Lafora disease.

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12 December 2020

Unusual presentation of Lafora's disease.

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12 December 2020

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters

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12 December 2020

Long-term observations of two siblings with Lafora disease treated with zonisamide

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12 December 2020

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

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12 December 2020

Advances in lafora progressive myoclonus epilepsy

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12 December 2020

Lafora-body disease with optic atrophy, macular degeneration and cardiac failure

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12 December 2020

Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy

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12 December 2020

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

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12 December 2020

Extracerebral biopsies in neurodegenerative diseases of childhood

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12 December 2020

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

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12 December 2020

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

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12 December 2020

A case of Lafora's disease associated with cardiac arrhythmia.

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12 December 2020

[Lafora's disease (EPM2)]

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12 December 2020

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

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12 December 2020

Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy

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12 December 2020

Lafora disease: a progressive myoclonus epilepsy

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12 December 2020

Progressive familial myoclonus epilepsy

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12 December 2020

Myoclonus epilepsy with cerebellar Lafora bodies. Report of a case

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12 December 2020

Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study.

1 reference

12 December 2020

[Lafora's disease and movement disorders: report of 2 cases]

1 reference

12 December 2020

Epilepsy evaluation by electroencephalography and magnetoencephalography in Lafora-body disease: a case report

1 reference

12 December 2020

Mutations in NHLRC1 cause progressive myoclonus epilepsy

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12 December 2020

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

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12 December 2020

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease.

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12 December 2020

Mental deterioration in Lafora's disease.

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12 December 2020

Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients

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12 December 2020

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

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12 December 2020

Lafora's disease: towards a clinical, pathologic, and molecular synthesis

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12 December 2020

10.2165/11319250-000000000-00000

Identifiers

DOI

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Dimensions Publication ID

28 July 2017

1051795322

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Fatcat ID

release_7qa72d73fnfftdvaikky2cqh7i

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Fatcat

https://api.fatcat.wiki/v0/release/7qa72d73fnfftdvaikky2cqh7i

24 November 2022

mapped directly with Wikidata item

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