(Q40599396)

21 September 2017

title

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

1 reference

21 September 2017

7

Stephen W Scherer

1 reference

21 September 2017

Leonarda Ianzano

1

1 reference

21 September 2017

Edwin J Young

2

1 reference

21 September 2017

Xiao C Zhao

3

1 reference

21 September 2017

Elayne M Chan

4

1 reference

21 September 2017

M T Rodriguez

5

1 reference

21 September 2017

Maria V Torrado

6

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21 September 2017

Berge A Minassian

8

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21 September 2017

publication date

1 February 2004

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21 September 2017

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21 September 2017

volume

23

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21 September 2017

issue

2

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21 September 2017

page(s)

170-176

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

21 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

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/10.1002%2FHUMU.10306

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

CAFASP-1: Critical assessment of fully automated structure prediction methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

Alternative splicing modulates subcellular localization of laforin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

Ultrastructure of Lafora bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

Initial sequencing and comparative analysis of the mouse genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10306

7 January 2021

Identifiers

DOI

10.1002/HUMU.10306

1 reference

release_nfdtkjk76ffknh3vjz22rs4prm

21 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nfdtkjk76ffknh3vjz22rs4prm

24 November 2022

mapped directly with Wikidata item

1 reference