(Q34563110)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

case report

0 references

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

Antonio V Delgado-Escueta

29 December 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

S Singh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

I Sethi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

S Francheschetti

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

C Riggio

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

G Avanzini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

S Ganesh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

1 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

e48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

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

29 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

Mutations in NHLRC1 cause progressive myoclonus epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

Advances in the genetics of progressive myoclonus epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564581

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16950819

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16950819

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.039479

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16950819%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

16950819

1 reference