(Q24676418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

author name string

Milani N

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Dalprá L

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

del Prete A

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Zanini R

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

Larizza L

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 February 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

page(s)

420-422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Residues within transmembrane segment M2 determine chloride conductance of glycine receptor homo- and hetero-oligomers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914546

Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8571969

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8571969%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference