Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
Identifieur interne : 000201 ( Istex/Corpus ); précédent : 000200; suivant : 000202Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
Auteurs : Christoph Kamm ; Joanne Leung ; Soni Joseph ; William B. Dobyns ; Alison Brashear ; Xandra O. Breakefield ; Laurie J. OzeliusSource :
- Movement Disorders [ 0885-3185 ] ; 2004-07.
English descriptors
Abstract
By examining two previously described families with rapid‐onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20095
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ISTEX:AECCBF11D9B2053F887A0EBBA6FB4144243D3D70Le document en format XML
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Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Christoph Kamm MD</name><affiliations><json:string>Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</json:string><json:string>Current Address: Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</json:string></affiliations></json:item><json:item><name>Joanne Leung MS</name><affiliations><json:string>Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</json:string></affiliations></json:item><json:item><name>Soni Joseph BS</name><affiliations><json:string>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>William B. 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type="organization"><unparsedAffiliation>Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA</unparsedAffiliation></affiliation><affiliation xml:id="curr1" countryCode="DE"><unparsedAffiliation>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">DYT12</keyword><keyword xml:id="kwd2">rapid‐onset dystonia–parkinsonism</keyword><keyword xml:id="kwd3">kainate receptor</keyword></keywordGroup><fundingInfo><fundingAgency>Dystonia Medical Research Foundation (DMRF)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institute of Neurological Disease and Stroke MGH/MIT Parkinson's Disease Center</fundingAgency><fundingNumber>NS38372</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Deutsche Forschungsgemeinschaft (DFG)</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>By examining two previously described families with rapid‐onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit <i>GRIK5</i>, revealed no mutations. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Clinical/Scientific Notes</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene</title></titleInfo><name type="personal"><namePart type="given">Christoph</namePart><namePart type="family">Kamm</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</affiliation><affiliation>Current Address: Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joanne</namePart><namePart type="family">Leung</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Soni</namePart><namePart type="family">Joseph</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">William B.</namePart><namePart type="family">Dobyns</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Illinois, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alison</namePart><namePart type="family">Brashear</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Xandra O.</namePart><namePart type="family">Breakefield</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie J.</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Ullmann 1211, 1300 Morris Park Avenue, Bronx, NY 10461</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief-communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-07</dateIssued><dateCaptured encoding="w3cdtf">2003-08-20</dateCaptured><dateValid encoding="w3cdtf">2003-12-29</dateValid><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">10</extent><extent unit="words">2063</extent></physicalDescription><abstract lang="en">By examining two previously described families with rapid‐onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations. © 2004 Movement Disorder Society</abstract><note type="funding">Dystonia Medical Research Foundation (DMRF)</note><note type="funding">National Institute of Neurological Disease and Stroke MGH/MIT Parkinson's Disease Center - No. NS38372; </note><note type="funding">Deutsche Forschungsgemeinschaft (DFG)</note><subject lang="en"><genre>keywords</genre><topic>DYT12</topic><topic>rapid‐onset dystonia–parkinsonism</topic><topic>kainate receptor</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Clinical/Scientific Note</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>845</start><end>847</end><total>3</total></extent></part></relatedItem><identifier type="istex">AECCBF11D9B2053F887A0EBBA6FB4144243D3D70</identifier><identifier type="DOI">10.1002/mds.20095</identifier><identifier type="ArticleID">MDS20095</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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