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[Lafora's disease (EPM2)]
scientific article published on 01 January 2007
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
review article
1 reference
stated in
Europe PubMed Central
title
[Lafora's disease (EPM2)]
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
author name string
P Genton
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
publication date
1 January 2007
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
published in
Revue neurologique
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
volume
163
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
page(s)
47-53
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
cites work
Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Corpora-amylacea and the family of polyglucosan diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lafora-body disease with optic atrophy, macular degeneration and cardiac failure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dramatic effect of levetiracetam on epileptic negative myoclonus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Semi-late onset and rapidly progressive case of Lafora's disease with predominant cognitive symptoms.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lafora disease due to EPM2B mutations: a clinical and genetic study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dramatic effect of ethosuximide on epileptic negative myoclonus: implications for the neurophysiological mechanism.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Visual ictal phenomena in a case of Lafora disease proven by skin biopsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PROGRESSIVE MYOCLONUS EPILEPSY WITH LAFORA BODIES. CLINICAL-PATHOLOGICAL FEATURES.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Long-term observations of two siblings with Lafora disease treated with zonisamide
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2807%2990354-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0035-3787(07)90354-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
PubMed publication ID
17304172
1 reference
stated in
Europe PubMed Central
PubMed publication ID
17304172
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17304172%20AND%20SRC:MED&resulttype=core&format=json
retrieved
25 December 2019
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