(Q37494639)

20 August 2017

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

1 reference

progressive myoclonus epilepsy

20 August 2017

1 reference

inferred from title

author

Albert de la Chapelle

7

object named as

de la Chapelle A

1 reference

20 August 2017

A. E. Lehesjoki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

M. Koskiniemi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

P. Sistonen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

J. Miao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

J. Hästbacka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

R. Norio

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

25 October 2022

language of work or name

English

0 references

publication date

1 May 1991

1 reference

full work available at URL

20 August 2017

https://europepmc.org/articles/PMC51519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

https://europepmc.org/articles/PMC51519?pdf=render

25 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1673790

https://pnas.org/doi/pdf/10.1073/pnas.88.9.3696

25 October 2022

1 reference

Crossref

DOI

10.1073/PNAS.88.9.3696

https://api.crossref.org/works/10.1073/PNAS.88.9.3696

Proceedings of the National Academy of Sciences of the United States of America

25 October 2022

published in

1 reference

20 August 2017

88

1 reference

20 August 2017

9

1 reference

20 August 2017

3696-3699

1 reference

Strategies for multilocus linkage analysis in humans

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Gene encoding the beta subunit of S100 protein is on chromosome 21: implications for Down syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Identification of more than 500 RFLPs by screening random genomic clones

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

An interspersed repeated sequence specific for human subtelomeric regions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Childhood epileptic syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

The evaluation and treatment of seizures

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Progressive myoclonus epilepsies: specific causes and diagnosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Urinary excretion of indican in progressive myoclonus epilepsy without Lafora bodies. The effect of sodium valproate

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

A polymorphic DNA sequence from the terminal part of chromosome 5p [D5S109]

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Neuropathological studies in three Scandinavian cases of progressive myoclonus epilepsy

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Progressive myoclonus epilepsy. A clinical and histopathological study.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Psychological findings in progressive myoclonus epilepsy without Lafora bodies.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51519

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6

2 September 2018

1 reference

12 December 2020

Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map

1 reference

12 December 2020

A genetic linkage map of 17 markers on human chromosome 21

1 reference

12 December 2020

Chromosome localization and polymorphism of an oestrogen-inducible gene specifically expressed in some breast cancers

1 reference

12 December 2020

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

1 reference

12 December 2020

Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy

1 reference

12 December 2020

Transient effect of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies: clinical and electrophysiological study

1 reference

12 December 2020

Simultaneous determination of tryptophan and its 5-hydroxy metabolites in human cerebrospinal fluid by reversed phase liquid chromatography with electrochemical detection

1 reference

12 December 2020

Progressive myoclonus epilepsy. Electroencephalographical findings

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.88.9.3696

1 reference

release_cf5kyx5itjesdps2sr72tidcv4

20 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cf5kyx5itjesdps2sr72tidcv4

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

1 reference