Isolated generalized dystonia in biallelic missense mutations of the ATM gene
Identifieur interne : 000265 ( Istex/Corpus ); précédent : 000264; suivant : 000266Isolated generalized dystonia in biallelic missense mutations of the ATM gene
Auteurs : Wassilios G. Meissner ; Marie Fernet ; Jérôme Couturier ; Janet Hall ; Anthony Laugé ; Patrick Henry ; Dominique Stoppa-Lyonnet ; François TisonSource :
- Movement Disorders [ 0885-3185 ] ; 2013-11.
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DOI: 10.1002/mds.25487
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ISTEX:888F916303ABF7F1F8E4DB96EA6300752BA23C0ELe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Isolated generalized dystonia in biallelic missense mutations of the ATM gene</title><author><name sortKey="Meissner, Wassilios G" sort="Meissner, Wassilios G" uniqKey="Meissner W" first="Wassilios G." last="Meissner">Wassilios G. Meissner</name><affiliation><mods:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: wassilios.meissner@chu-bordeaux.fr</mods:affiliation></affiliation></author><author><name sortKey="Fernet, Marie" sort="Fernet, Marie" uniqKey="Fernet M" first="Marie" last="Fernet">Marie Fernet</name><affiliation><mods:affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut Curie‐Recherche, Orsay, France</mods:affiliation></affiliation></author><author><name sortKey="Couturier, Jerome" sort="Couturier, Jerome" uniqKey="Couturier J" first="Jérôme" last="Couturier">Jérôme Couturier</name><affiliation><mods:affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut Curie‐Recherche, Orsay, France</mods:affiliation></affiliation></author><author><name sortKey="Hall, Janet" sort="Hall, Janet" uniqKey="Hall J" first="Janet" last="Hall">Janet Hall</name><affiliation><mods:affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut Curie‐Recherche, Orsay, France</mods:affiliation></affiliation></author><author><name sortKey="Lauge, Anthony" sort="Lauge, Anthony" uniqKey="Lauge A" first="Anthony" last="Laugé">Anthony Laugé</name><affiliation><mods:affiliation>Department of Tumour Biology, Institut Curie, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Henry, Patrick" sort="Henry, Patrick" uniqKey="Henry P" first="Patrick" last="Henry">Patrick Henry</name><affiliation><mods:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France</mods:affiliation></affiliation></author><author><name sortKey="Stoppa Yonnet, Dominique" sort="Stoppa Yonnet, Dominique" uniqKey="Stoppa Yonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><mods:affiliation>Department of Tumour Biology, Institut Curie, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut Curie, INSERM Unité 830, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Paris Descartes, Paris, Sorbonne Paris Cité, France</mods:affiliation></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation><mods:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:888F916303ABF7F1F8E4DB96EA6300752BA23C0E</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/mds.25487</idno><idno type="url">https://api.istex.fr/document/888F916303ABF7F1F8E4DB96EA6300752BA23C0E/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000265</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000265</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Isolated generalized dystonia in biallelic missense mutations of the ATM gene</title><author><name sortKey="Meissner, Wassilios G" sort="Meissner, Wassilios G" uniqKey="Meissner W" first="Wassilios G." last="Meissner">Wassilios G. 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ataxia‐telangiectasia in adulthood</title></json:item><json:item><author><json:item><name>C Simonin</name></json:item><json:item><name>D Devos</name></json:item><json:item><name>I Vuillaume</name></json:item></author><host><volume>255</volume><pages><last>1262</last><first>1261</first></pages><author></author><title>J Neurol</title></host><title>Attenuated presentation of ataxia‐telangiectasia with familial cancer history</title></json:item><json:item><author><json:item><name>R Saunders‐Pullman</name></json:item><json:item><name>D Raymond</name></json:item><json:item><name>AJ Stoessl</name></json:item></author><host><volume>78</volume><pages><last>657</last><first>649</first></pages><author></author><title>Neurology</title></host><title>Variant ataxia‐telangiectasia presenting as primary‐appearing dystonia in Canadian Mennonites</title></json:item><json:item><author><json:item><name>F Carrillo</name></json:item><json:item><name>SA Schneider</name></json:item><json:item><name>AM Taylor</name></json:item><json:item><name>V Srinivasan</name></json:item><json:item><name>R Kapoor</name></json:item><json:item><name>KP Bhatia</name></json:item></author><host><volume>8</volume><pages><last>27</last><first>22</first></pages><author></author><title>Cerebellum</title></host><title>Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia</title></json:item><json:item><author><json:item><name>SG Becker‐Catania</name></json:item><json:item><name>G Chen</name></json:item><json:item><name>MJ Hwang</name></json:item></author><host><volume>70</volume><pages><last>133</last><first>122</first></pages><author></author><title>Molecular Genet Metabol</title></host><title>Ataxia‐telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity</title></json:item><json:item><author><json:item><name>MM Verhagen</name></json:item><json:item><name>JI Last</name></json:item><json:item><name>FB Hogervorst</name></json:item></author><host><volume>33</volume><pages><last>571</last><first>561</first></pages><author></author><title>Hum Mut</title></host><title>Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia‐telangiectasia: a genotype‐phenotype study</title></json:item><json:item><author><json:item><name>M Warcoin</name></json:item><json:item><name>J Lespinasse</name></json:item><json:item><name>G Despouy</name></json:item></author><host><volume>30</volume><pages><last>430</last><first>424</first></pages><author></author><title>Hum Mut</title></host><title>Fertility defects revealing germline biallelic nonsense NBN mutations</title></json:item><json:item><author><json:item><name>PF Worth</name></json:item><json:item><name>V Srinivasan</name></json:item><json:item><name>A Smith</name></json:item></author><host><volume>28</volume><pages><last>528</last><first>524</first></pages><author></author><title>Mov Disord</title></host><title>Very 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Meissner and Marie Fernet contributed equally to this work.</note><affiliation>Wassilios G. Meissner and Marie Fernet contributed equally to this work.</affiliation><affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France</affiliation><affiliation>Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France</affiliation><affiliation>Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France</affiliation></author><author xml:id="author-2"><persName><forename type="first">Marie</forename><surname>Fernet</surname></persName><roleName type="degree">PhD</roleName><note type="biography">Wassilios G. Meissner and Marie Fernet contributed equally to this work.</note><affiliation>Wassilios G. Meissner and Marie Fernet contributed equally to this work.</affiliation><affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</affiliation><affiliation>Institut Curie‐Recherche, Orsay, France</affiliation></author><author xml:id="author-3"><persName><forename type="first">Jérôme</forename><surname>Couturier</surname></persName><roleName type="degree">MD</roleName><affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</affiliation><affiliation>Institut Curie‐Recherche, Orsay, France</affiliation></author><author xml:id="author-4"><persName><forename type="first">Janet</forename><surname>Hall</surname></persName><roleName type="degree">PhD</roleName><affiliation>Institut National de la Santé et de la Recherche Méedicale (INSERM) Unité 612, Orsay, France</affiliation><affiliation>Institut Curie‐Recherche, Orsay, France</affiliation></author><author xml:id="author-5"><persName><forename 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position="130"><doi>10.1002/mds.v28.13</doi><copyright ownership="thirdParty">© 2013 Movement Disorder Society</copyright><numberingGroup><numbering type="journalVolume" number="28">28</numbering><numbering type="journalIssue">13</numbering></numberingGroup><coverDate startDate="2013-11">November 2013</coverDate></publicationMeta><publicationMeta level="unit" position="310" type="letter" status="forIssue"><doi>10.1002/mds.25487</doi><idGroup><id type="unit" value="MDS25487"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="articleCategory">Letters: New Observation</title><title type="tocHeading1">Letters: New Observation</title></titleGroup><copyright ownership="thirdParty">© 2013 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2013-01-03"></event><event type="manuscriptRevised" date="2013-02-18"></event><event type="manuscriptAccepted" date="2013-04-01"></event><event type="xmlCreated" 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Meissner Department of Neurology, University Hospital Bordeaux, Avenue Magellan, 33604 Pessac Cedex, France; <email>wassilios.meissner@chu-bordeaux.fr</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS25487.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Isolated generalized dystonia in biallelic missense mutations of the <i>ATM</i> gene</title><title type="short">Letters: New Observation</title><title type="shortAuthors">Letters: New Observation</title></titleGroup><creators><creator affiliationRef="#mds25487-aff-0001 #mds25487-aff-0002 #mds25487-aff-0003" corresponding="yes" noteRef="#mds25487-note-0003" creatorRole="author" xml:id="mds25487-cr-0001"><personName><givenNames>Wassilios G.</givenNames><familyName>Meissner</familyName><degrees>MD, PhD</degrees></personName></creator><creator affiliationRef="#mds25487-aff-0004 #mds25487-aff-0005" noteRef="#mds25487-note-0003" creatorRole="author" 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