(Q24517906)

English

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis

scientific article

In more languages

Statements

scholarly article

0 references

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis (English)

0 references

1 reference

based on heuristic

inferred from title

spastic paraparesis

1 reference

based on heuristic

inferred from title

author name string

F V Elmslie

1

0 references

S M Hutchings

2

0 references

V Spencer

3

0 references

A Curtis

4

0 references

T Covanis

5

0 references

R M Gardiner

6

0 references

M Rees

7

0 references

language of work or name

0 references

publication date

May 1996

0 references

Journal of Medical Genetics

0 references

33

0 references

435-6

0 references

5

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

Mutational analysis of familial and sporadic hyperekplexia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050620

19 March 2017

Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733061

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733061

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733061

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.5.435

0 references

0 references

0 references

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24517906&oldid=1950052075"