(Q37408209)

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

scientific article published on May 2009

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scholarly article

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Europe PubMed Central

PubMed publication ID

20 August 2017

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1 reference

Europe PubMed Central

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

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

0 references

progressive myoclonus epilepsy

1 reference

based on heuristic

inferred from title

author name string

Shweta Singh

1

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

Subramaniam Ganesh

2

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 May 2009

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

715-723

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

21 January 2018

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/10.1002%2FHUMU.20954

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Advances in the genetics of progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal survival in epilepsy: to die or not to die?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternative splicing modulates subcellular localization of laforin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Transgenic overexpression of protein targeting to glycogen markedly increases adipocytic glycogen storage in mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

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Beitrag zur Histopathologie der myoklonischen Epilepsie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Expanded repeat in canine epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Glycogen metabolism in tissues from a mouse model of Lafora disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Laforin confers cancer resistance to energy deprivation-induced apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical studies on tissues from a patient with lafora disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20954

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20954

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 August 2017

ResearchGate publication ID

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