(Q30436113)

26 September 2017

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene (English)

1 reference

26 September 2017

6

1 reference

26 September 2017

Seo-Kyung Chung

4

0 references

Robert J. Harvey

object named as

Robert J Harvey

8

0 references

author name string

Jennifer L Gill

1

1 reference

26 September 2017

Deborah Capper

2

1 reference

26 September 2017

Jean-François Vanbellinghen

3

1 reference

26 September 2017

Robert J Higgins

5

1 reference

26 September 2017

G Diane Shelton

7

1 reference

26 September 2017

17 March 2011

1 reference

26 September 2017

Neurobiology of Disease

1 reference

26 September 2017

43

1 reference

26 September 2017

1

1 reference

26 September 2017

184-189

1 reference

Identification of congenital muscular dystonia 2 associated with an inherited GlyT2 defect in Belgian Blue cattle from the United Kingdom.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Serotonin receptor 1A-modulated phosphorylation of glycine receptor α3 controls breathing in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

The glycine transporter GlyT2 controls the dynamics of synaptic vesicle refilling in inhibitory spinal cord neurons

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

The genetics of hyperekplexia: more than startle!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Highly effective SNP-based association mapping and management of recessive defects in livestock

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

A nonsense mutation in the alpha1 subunit of the inhibitory glycine receptor associated with bovine myoclonus.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Mutational analysis of familial and sporadic hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Disorder of the inhibitory glycine receptor: inherited myoclonus in Poll Hereford calves

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Increased gamma-aminobutyric acid receptor function in the cerebral cortex of myoclonic calves with an hereditary deficit in glycine/strychnine receptors.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Familial reflex myoclonus in Labrador Retrievers.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4068303

Inherited congenital myoclonus of polled Hereford calves (so-called neuraxial oedema): a clinical, pathological and biochemical study

26 November 2018

1 reference

12 December 2020

Deficit of inhibitory glycine receptors in spinal cord from Peruvian Pasos: evidence for an equine form of inherited myoclonus

1 reference

12 December 2020

Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients

1 reference

12 December 2020

Episodic falling in the cavalier King Charles spaniel

1 reference

12 December 2020

1 reference

12 December 2020

10.1016/J.NBD.2011.03.010

Identifiers

DOI

1 reference

release_ort3xuspbrhhney23ax7qmqsfm

26 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ort3xuspbrhhney23ax7qmqsfm

24 November 2022

mapped directly with Wikidata item

1 reference

26 September 2017

1 reference