Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22 (Q35443679)

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7 November 2019

title

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

1 reference

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progressive myoclonus epilepsy

7 November 2019

main subject

1 reference

3

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Antonio V Delgado-Escueta

7 November 2019

8

1 reference

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7 November 2019

Stephen W. Scherer

9

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7 November 2019

7

G A Rouleau

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7 November 2019

author name string

E M Chan

1

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7 November 2019

D E Bulman

2

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7 November 2019

J Turnbull

4

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7 November 2019

E Andermann

5

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7 November 2019

F Andermann

6

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7 November 2019

B A Minassian

10

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7 November 2019

language of work or name

English

0 references

publication date

1 September 2003

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Journal of Medical Genetics

7 November 2019

published in

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7 November 2019

volume

40

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7 November 2019

issue

9

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7 November 2019

page(s)

671-675

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

7 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Microtubule-based transport systems in neurons: the roles of kinesins and dyneins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Comprehensive human genetic maps: individual and sex-specific variation in recombination

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

DEK, an autoantigen involved in a chromosomal translocation in acute myelogenous leukemia, binds to the HIV-2 enhancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Parametric and nonparametric linkage analysis: a unified multipoint approach

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Faster sequential genetic linkage computations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Strategies for multilocus linkage analysis in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Myoclonus epilepsy with Lafora bodies. An ultrastruc- tural and cytochemical study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Getting the message from the gene to the synapse: sorting and intracellular transport of RNA in neurons

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Faster multipoint linkage analysis using Fourier transforms.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Avoiding recomputation in linkage analysis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578

Corpora-amylacea and the family of polyglucosan diseases

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12960212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12960212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.40.9.671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

12960212

1 reference