Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis (Q24517906)

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

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instance of

scholarly article

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title

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

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main subject

paraparesis

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based on heuristic

inferred from title

spastic paraparesis

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based on heuristic

inferred from title

author name string

F V Elmslie

series ordinal

1

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S M Hutchings

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2

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V Spencer

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3

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A Curtis

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4

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T Covanis

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5

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R M Gardiner

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6

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M Rees

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7

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language of work or name

English

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publication date

May 1996

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published in

Journal of Medical Genetics

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volume

33

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issue

5

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page(s)

435-6

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cites work

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

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

stated in

PubMed Central

reference URL

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

retrieved

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

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

Mutational analysis of familial and sporadic hyperekplexia

1 reference

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

19 March 2017

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

1 reference

stated in

PubMed

reference URL

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

retrieved

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

stated in

PubMed

reference URL

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

retrieved

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

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.33.5.435

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PMC publication ID

1050620

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PubMed publication ID

8733061

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ResearchGate publication ID

14469567

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