(Q39202883)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

author name string

Edoardo Ferlazzo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Vi-Hong Nguyen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Pierre Genton

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

publication date

1 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

860-866

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

21 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Progressive myoclonus epilepsy of Unverricht-Lundborg type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Classification of progressive myoclonus epilepsies and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Identical genetic locus for Baltic and Mediterranean myoclonus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Valproic acid. Treatment of myoclonus in dyssynergia cerebellaris myoclonica

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00553.X

10.1111/J.1528-1167.2006.00553.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16686650%20AND%20SRC:MED&resulttype=core&format=json

release_jic6snwkirhjfpzj5qjugtfe3q

21 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/jic6snwkirhjfpzj5qjugtfe3q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference