About: Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm

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About: Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm Goto Sponge NotDistinct Permalink

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scientific article published on 01 March 2002

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rdf:type	Item
description	wetenschappelijk artikel (nl) bài báo khoa học (vi) наукова стаття, опублікована в березні 2002 (uk) im März 2002 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en marzu de 2002 (ast) scientific article published on 01 March 2002 (en)
publication date	wds:Q77840758-71DE38E7-A840-4D5E-857F-260876ECFF2E
publication date	2002-03-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q77840758-1BB77A0E-259A-4E60-BCCD-BD9B59BCF17E wds:Q77840758-208A0590-6DA8-402E-945E-97CF23DEB83B wds:Q77840758-23393545-CB22-4C6B-AD48-65A569A99E30 wds:Q77840758-287BA52A-1F0C-4382-8886-B093F3FD87B2 wds:Q77840758-29548180-AD55-44FA-9A49-975FA070F84B wds:Q77840758-38EE4ACA-2896-482A-BF33-EB716303E238 wds:Q77840758-43915EFE-9098-434D-969F-6CD88E290913 wds:Q77840758-4A15B75A-A005-4FC1-8956-DC1C0755AE8C wds:Q77840758-5B350299-6BB1-44BE-91CA-81B2C36E97F2 wds:Q77840758-5D9701D1-943A-46BA-8A60-87055FF43C4A wds:Q77840758-6AA89B92-74CC-4F62-A66F-48152BD686AD wds:Q77840758-73EBF78C-FFFD-43B8-A95A-AD78D5CCD074 wds:Q77840758-7EB2E604-8361-4EAA-8213-C154D25C32D0 wds:Q77840758-8444BDE7-0AAB-45C8-8FC3-C6216B70CC57 wds:Q77840758-8C4C1DF3-E9C3-41CE-9E9C-D29A793FDEF2 wds:Q77840758-984AFA9E-B724-4802-86BB-5E547B025C31 wds:Q77840758-A3C65FF9-FEB0-4EF5-A244-8983F4A9AED9 wds:Q77840758-A402721A-9686-4BCB-AC7F-5465962FA9D3 wds:Q77840758-A6E504D6-6892-4974-80DC-64E32136E918 wds:Q77840758-B6A7A316-6398-4EB7-9552-7F896CD271AC wds:Q77840758-C5560C29-D6BC-4165-9ED0-10B7A99B2D8E wds:Q77840758-C6333B9D-6ECB-4FA3-8B8A-4D2EA7383D57 wds:Q77840758-EDE6C44E-7EC2-425B-9B9B-D1E0B23C5A67 wds:Q77840758-FA850147-54A1-4568-BEE5-500034EE0FFC
cites work	Tolcapone: COMT inhibition for the treatment of Parkinson's disease Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations? The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. The DYT1 phenotype and guidelines for diagnostic testing DYT1 mutation in French families with idiopathic torsion dystonia The role of DYT1 in primary torsion dystonia in Europe. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. A common 3-bp deletion in the DYT1 gene in Russian families with early-onset torsion dystonia Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Status dystonicus: the syndrome and its management. Severe dystonia and myoglobinuria Dystonic storms: a practical management problem Intrathecal baclofen in the treatment of dystonic storm Dopa-responsive dystonia: recent advances and remaining issues to be addressed. Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration Post-traumatic movement disorders: central and peripheral mechanisms Can peripheral trauma induce dystonia and other movement disorders? Yes! Phenotypic variability of the DYT1 mutation in German dystonia patients Posttraumatic movement disorders: a review Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations Rhabdomyolysis due to hereditary torsion dystonia Ethnic variation in the clinical expression of idiopathic torsion dystonia DYT1 mutation in Japanese patients with primary torsion dystonia
author name string	wds:Q77840758-19F89CC2-A976-4719-9E60-AAA4F327E334 wds:Q77840758-1EFD2298-9C0D-4FD8-8F66-41576FF30AAC wds:Q77840758-7A5E0E43-6999-40A5-93A0-8CCECDB69B47 wds:Q77840758-8D840A9A-53D7-4F45-A692-BE15074E2BEB wds:Q77840758-CD39E57F-E1D8-48DE-BD24-5C1509B4E263
author name string	Joseph Jankovic Puneet Opal Ron Tintner Joanne Leung Jennifer Friedman
rdfs:label	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (en) Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (nl)
skos:prefLabel	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (en) Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (nl)
name	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (en) Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (nl)
author	wds:Q77840758-8AE7CAC2-1BEB-46B3-A7AD-19463CD2F358 wds:Q77840758-DDD819BF-306D-4836-BC85-A7E75213A07D
author	Xandra O. Breakefield Laurie Ozelius
title	wds:Q77840758-0DBBC1AF-5754-4ACE-BC7A-A8165D8E7C8A
title	Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm (en)
page(s)	wds:Q77840758-AA57587A-C297-486D-A6B5-48FDECE75860
page(s)	339-345
instance of	wds:Q77840758-8C5D3E0F-F47F-4932-9E1C-62C9E245E1DE
instance of	scholarly article
main subject	wds:Q77840758-C912102A-DE48-480F-8D56-8A635C1F49F2
main subject	torsion dystonia
PubMed ID	wds:Q77840758-D56CB383-26AF-41F2-B0CE-2D3D794EDE4A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/11921121
PubMed ID	11921121
published in	wds:Q77840758-D125FC8B-581D-44FC-99BC-71D64BD601EC
published in	Movement Disorders
issue	wds:Q77840758-7A08B3E3-70D5-40DF-A4E8-4BA9375DDFD2
volume	wds:Q77840758-2F68FABB-8A72-4506-9C44-F45A10F788A9
issue	2
volume	17
DOI	wds:Q77840758-41CDBF9E-A225-4272-883B-0417E3940674
DOI	http://dx.doi.org/10.1002/MDS.10096
DOI	10.1002/MDS.10096
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q77840758
is cites work of	Early onset torsion dystonia (Oppenheim's dystonia) Genetic and clinical features of primary torsion dystonia

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