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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
title
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
main subject
progressive myoclonus epilepsy
1 reference
based on heuristic
inferred from title
author
Andrew D. Paterson
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Antonio V Delgado-Escueta
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Stephen W. Scherer
series ordinal
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
Guy A. Rouleau
series ordinal
7
object named as
G A Rouleau
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
author name string
E M Chan
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
D E Bulman
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
J Turnbull
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
E Andermann
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
F Andermann
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
B A Minassian
series ordinal
10
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
language of work or name
English
0 references
publication date
1 September 2003
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
published in
Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
volume
40
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
issue
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
page(s)
671-675
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
cites work
Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product
1 reference
stated in
PubMed Central
reference URL
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12 July 2018
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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12 July 2018
Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.
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PubMed Central
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12 July 2018
A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen
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PubMed Central
reference URL
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12 July 2018
Identification of the human KIF13A gene homologous to Drosophila kinesin-73 and candidate for schizophrenia
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12 July 2018
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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12 July 2018
Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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12 July 2018
Microtubule-based transport systems in neurons: the roles of kinesins and dyneins
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PubMed Central
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12 July 2018
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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12 July 2018
Comprehensive human genetic maps: individual and sex-specific variation in recombination
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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12 July 2018
DEK, an autoantigen involved in a chromosomal translocation in acute myelogenous leukemia, binds to the HIV-2 enhancer
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PubMed Central
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12 July 2018
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12 July 2018
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12 July 2018
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PubMed Central
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12 July 2018
Myoclonus epilepsy with Lafora bodies. An ultrastruc- tural and cytochemical study
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12 July 2018
Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea
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12 July 2018
Getting the message from the gene to the synapse: sorting and intracellular transport of RNA in neurons
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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Faster multipoint linkage analysis using Fourier transforms.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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Avoiding recomputation in linkage analysis.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735578
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26 September 2018
Corpora-amylacea and the family of polyglucosan diseases
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/12960212
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/12960212
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.40.9.671
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
PMC publication ID
1735578
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
PubMed publication ID
12960212
1 reference
stated in
Europe PubMed Central
PMC publication ID
1735578
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12960212%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 November 2019
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