About: Hyperekplexia caused by dominant-negative suppression of glyra1 function

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About: Hyperekplexia caused by dominant-negative suppression of glyra1 function Goto Sponge Distinct Permalink

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scientific article published on 01 May 2007

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в травні 2007 (uk) artículu científicu espublizáu en mayu de 2007 (ast) scientific article published on 01 May 2007 (en)
publication date	wds:Q80400674-91DB3B05-4397-451F-B80A-702FF8C17094
publication date	2007-05-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q80400674-4EADA7C8-78A8-4499-B98E-035F2693B418 wds:Q80400674-D08383F7-A152-4FA0-8EA6-73D0969CCB43 wds:Q80400674-E2401EC7-E98E-43F2-B6A8-174272FD6B52 wds:Q80400674-E7ED56C8-41A4-4255-A50B-75B313222684 wds:Q80400674-F19A5E7D-7F6B-481E-8B0B-228D466274B9 wds:Q80400674-FC7C939C-1255-49B9-9ABA-BEEF95A25DC2
author name string	Taglialatela M Miraglia del Giudice E Mangano S Pascotto A Barbagallo A Bellini G
rdfs:label	Hyperekplexia caused by dominant-negative suppression of glyra1 function (en) Hyperekplexia caused by dominant-negative suppression of glyra1 function (nl)
skos:prefLabel	Hyperekplexia caused by dominant-negative suppression of glyra1 function (en) Hyperekplexia caused by dominant-negative suppression of glyra1 function (nl)
name	Hyperekplexia caused by dominant-negative suppression of glyra1 function (en) Hyperekplexia caused by dominant-negative suppression of glyra1 function (nl)
author	wds:Q80400674-A95CF7FC-6505-40CB-B101-B483DC53E259 wds:Q80400674-C09C1BD0-0601-4EC0-B3F2-5F96177FBEDB
author	Giangennaro Coppola Francesco Miceli
title	wds:Q80400674-D228DDE8-1FE0-466F-95D0-5A7434CB03F6
title	Hyperekplexia caused by dominant-negative suppression of glyra1 function (en)
page(s)	wds:Q80400674-3AA29E29-2C28-4B46-97C7-504C5726E95B
page(s)	1947-1949
instance of	wds:Q80400674-98B98530-F606-4ADB-BC1C-8C93844E9DAC
instance of	scholarly article
PubMed ID	wds:Q80400674-285798A1-BCC5-4FC7-AFA2-F5E6B2E6A27C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/17536053
PubMed ID	17536053
published in	wds:Q80400674-84CC3520-7437-4ADB-A376-74F5E46102D1
published in	Neurology
issue	wds:Q80400674-41D8F2FF-3E42-42A5-9EBD-AD99C6AA7C52
volume	wds:Q80400674-ED3FC345-FCFB-4758-B41E-EF1203626387
issue	22
volume	68
DOI	wds:Q80400674-33DDDF94-54DF-40B3-8AE7-B1A38C04EEE0
DOI	http://dx.doi.org/10.1212/01.WNL.0000263193.75291.85
DOI	10.1212/01.WNL.0000263193.75291.85
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q80400674
is cites work of	Glycine receptor mouse mutants: model systems for human hyperekplexia New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia The impact of human hyperekplexia mutations on glycine receptor structure and function Impaired Glycine Receptor Trafficking in Neurological Diseases Hyperekplexia: treatment of a severe phenotype and review of the literature.
is cites work of	wds:Q26830661-5290EE8C-BDFA-4633-B2EB-778682B590D0 wds:Q39680100-DBF62A52-50B4-465D-B692-AB3DB474B730 wds:Q30426940-7D1A45BD-9516-4C3F-A2D2-D5CAA39C5978 wds:Q37868359-08116FB0-AF36-4887-A95E-6C744E97AACF wds:Q37333728-70076CC4-163A-4B97-A93B-9DC157F117E6 wds:Q58728657-8FC84ECE-C518-4854-B529-4745255A5C9B

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