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Hyperekplexia-like syndromes without mutations in the GLRA1 gene
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title
Hyperekplexia-like syndromes without mutations in the GLRA1 gene
(English)
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author name string
M N Vergouwe
series ordinal
1
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M A Tijssen
series ordinal
2
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R Shiang
series ordinal
3
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J G van Dijk
series ordinal
4
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S al Shahwan
series ordinal
5
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R A Ophoff
series ordinal
6
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R R Frants
series ordinal
7
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language of work or name
English
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publication date
August 1997
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published in
Clinical Neurology and Neurosurgery
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volume
99
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issue
3
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page(s)
172-8
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cites work
Startle disease or hyperekplexia: further delineation of the syndrome
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyperexplexia: an inherited disorder of the startle response
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nose Tapping Test Inducing a Generalized Flexor Spasm: A Hallmark of Hyperexplexia
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyperekplexia: pedigree studies in two families
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stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
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inferred from DOI database lookup
Hyperekplexia: a syndrome of pathological startle responses
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The hyperekplexias and their relationship to the normal startle reflex
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neonatal hyperekplexia: a case report
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stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
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Hyperekplexia associated with apnea and sudden infant death syndrome
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
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inferred from DOI database lookup
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
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inferred from DOI database lookup
Cloning and expression of the 58 kd beta subunit of the inhibitory glycine receptor
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
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Mutational analysis of familial and sporadic hyperekplexia
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
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Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia
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reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
based on heuristic
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Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonists into competitive antagonists
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetic reevaluation of the Dutch hyperekplexia family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Vigabatrin for startle-disease with altered cerebrospinal-fluid free gamma-aminobutyric acid
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A simple salting out procedure for extracting DNA from human nucleated cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein levels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Periodic nocturnal myoclonus in a patient with hyperexplexia (startle disease)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isoform-selective deficit of glycine receptors in the mouse mutant spastic
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic mapping of the glycine receptor ?3 subunit on mouse Chromosome 8
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0303-8467%2897%2900022-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0303-8467(97)00022-X
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PubMed publication ID
9350397
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