(Q28139306)

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Hyperekplexia in the first year of life

scientific article (publication date: November 2000)

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title

Hyperekplexia in the first year of life (English)

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author name string

M A Koning-Tijssen

series ordinal

1

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O F Brouwer

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2

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language of work or name

English

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publication date

November 2000

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published in

Movement Disorders

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volume

15

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issue

6

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page(s)

1293-6

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cites work

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

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https://api.crossref.org/works/10.1002%2F1531-8257%28200011%2915%3A6%3C1293%3A%3AAID-MDS1047%3E3.0.CO%3B2-K

retrieved

21 January 2018

Startle disease or hyperekplexia: further delineation of the syndrome

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reference URL

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21 January 2018

1 reference

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retrieved

21 January 2018

Hyperekplexia: a syndrome of pathological startle responses

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reference URL

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retrieved

21 January 2018

The hyperekplexias and their relationship to the normal startle reflex

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21 January 2018

Hyperekplexia: pedigree studies in two families

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reference URL

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21 January 2018

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

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reference URL

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21 January 2018

Mutational analysis of familial and sporadic hyperekplexia

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21 January 2018

Molecular genetic reevaluation of the Dutch hyperekplexia family

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

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21 January 2018

Neonatal sporadic hyperekplexia: a rare and often unrecognized entity.

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21 January 2018

Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response

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21 January 2018

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

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21 January 2018

Isoform-selective deficit of glycine receptors in the mouse mutant spastic

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21 January 2018

Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits

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retrieved

21 January 2018

Alternative splicing generates two isoforms of the alpha 2 subunit of the inhibitory glycine receptor

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reference URL

https://api.crossref.org/works/10.1002%2F1531-8257%28200011%2915%3A6%3C1293%3A%3AAID-MDS1047%3E3.0.CO%3B2-K

retrieved

21 January 2018

Identifiers

DOI

10.1002/1531-8257(200011)15:6<1293::AID-MDS1047>3.0.CO;2-K

1 reference

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4755545

OpenCitations bibliographic resource ID

4755545

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4755545

PubMed publication ID

11104232

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4755545

(Q28139306)

Hyperekplexia in the first year of life

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