(Q36324272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16311711%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

review article

1 reference

title

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16311711%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

2

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9 January 2020

author name string

Subramaniam Ganesh

1

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9 January 2020

Shweta Singh

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16311711%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Shuchi Mittal

4

1 reference

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9 January 2020

Deepti Dubey

5

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9 January 2020

publication date

26 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16311711%20AND%20SRC:MED&resulttype=core&format=json

Journal of Human Genetics

9 January 2020

published in

1 reference

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9 January 2020

volume

51

1 reference

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9 January 2020

issue

1

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9 January 2020

page(s)

1-8

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https://scigraph.springernature.com/pub.10.1007/s10038-005-0321-1

9 January 2020

exact match

0 references

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%2FS10038-005-0321-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0321-1

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-005-0321-1

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%2FS10038-005-0321-1

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

1 reference

12 December 2020

Regional and developmental expression of Epm2a gene and its evolutionary conservation

1 reference

12 December 2020

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

1 reference

12 December 2020

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

1 reference

12 December 2020

Advances in the genetics of progressive myoclonus epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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.

1 reference

12 December 2020

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

1 reference

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

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

Alternative splicing modulates subcellular localization of laforin

1 reference

12 December 2020

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

1 reference

12 December 2020

Biochemical studies on tissues from a patient with lafora disease

1 reference

12 December 2020

Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

1 reference

12 December 2020

Expanded repeat in canine epilepsy

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

1 reference

12 December 2020

Regulatory functions of ubiquitination in the immune system

1 reference

12 December 2020

Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

12 December 2020

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

1 reference

12 December 2020

Corpora-amylacea and the family of polyglucosan diseases

1 reference

12 December 2020

10.1007/S10038-005-0321-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16311711%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference