Advances in lafora progressive myoclonus epilepsy (Q36926065)

17 August 2017

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title

Advances in lafora progressive myoclonus epilepsy (English)

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17 August 2017

Antonio V Delgado-Escueta

series ordinal

1

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17 August 2017

1 September 2007

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Current Neurology and Neuroscience Reports

17 August 2017

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17 August 2017

7

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17 August 2017

5

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17 August 2017

428-433

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https://scigraph.springernature.com/pub.10.1007/s11910-007-0066-7

17 August 2017

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cites work

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

1 reference

https://api.crossref.org/works/10.1007%2FS11910-007-0066-7

LAFORA'S DISEASE. DISTINCT CLINICO-PATHOLOGIC FORM OF UNVERRICHT'S SYNDROME.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-007-0066-7

Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-007-0066-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-007-0066-7

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

21 January 2018

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12 December 2020

Amino acid sequence of a novel protein phosphatase 1 binding protein (R5) which is related to the liver- and muscle-specific glycogen binding subunits of protein phosphatase 1

1 reference

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

1 reference

12 December 2020

Advances in the genetics of progressive myoclonus epilepsy

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12 December 2020

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

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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

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

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12 December 2020

Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities

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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

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product

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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

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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

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12 December 2020

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

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12 December 2020

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen

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12 December 2020

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

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12 December 2020

Noninvasive gene targeting to the brain

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12 December 2020

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

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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

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

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in NHLRC1 cause progressive myoclonus epilepsy

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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

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

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12 December 2020

10.1007/S11910-007-0066-7

Identifiers

DOI

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17 August 2017

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PubMed ID

17764634