ParkinsonFranceV1, PubMed, Corpus, bibRecord, 000671

Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

Identifieur interne : 000671 ( PubMed/Corpus ); précédent : 000670; suivant : 000672

Isolated 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 Tison

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.

RBID : pubmed:23640770

English descriptors

KwdEn :
- Ataxia Telangiectasia Mutated Proteins (genetics), Dystonia (genetics), Family Health, Female, Humans, Male, Mutation, Missense (genetics).
MESH :
- chemical , genetics : Ataxia Telangiectasia Mutated Proteins.
- genetics : Dystonia, Mutation, Missense.
- Family Health, Female, Humans, Male.

DOI: 10.1002/mds.25487
PubMed: 23640770

Links to Exploration step

pubmed:23640770

Le document en format XML

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<author><name sortKey="Meissner, Wassilios G" sort="Meissner, Wassilios G" uniqKey="Meissner W" first="Wassilios G" last="Meissner">Wassilios G. Meissner</name>
<affiliation><nlm:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France; Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France; Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Fernet, Marie" sort="Fernet, Marie" uniqKey="Fernet M" first="Marie" last="Fernet">Marie Fernet</name>
</author>
<author><name sortKey="Couturier, Jerome" sort="Couturier, Jerome" uniqKey="Couturier J" first="Jérôme" last="Couturier">Jérôme Couturier</name>
</author>
<author><name sortKey="Hall, Janet" sort="Hall, Janet" uniqKey="Hall J" first="Janet" last="Hall">Janet Hall</name>
</author>
<author><name sortKey="Lauge, Anthony" sort="Lauge, Anthony" uniqKey="Lauge A" first="Anthony" last="Laugé">Anthony Laugé</name>
</author>
<author><name sortKey="Henry, Patrick" sort="Henry, Patrick" uniqKey="Henry P" first="Patrick" last="Henry">Patrick Henry</name>
</author>
<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
</author>
<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
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<affiliation><nlm:affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France; Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France; Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.</nlm:affiliation>
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<author><name sortKey="Fernet, Marie" sort="Fernet, Marie" uniqKey="Fernet M" first="Marie" last="Fernet">Marie Fernet</name>
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<author><name sortKey="Couturier, Jerome" sort="Couturier, Jerome" uniqKey="Couturier J" first="Jérôme" last="Couturier">Jérôme Couturier</name>
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<author><name sortKey="Lauge, Anthony" sort="Lauge, Anthony" uniqKey="Lauge A" first="Anthony" last="Laugé">Anthony Laugé</name>
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<author><name sortKey="Henry, Patrick" sort="Henry, Patrick" uniqKey="Henry P" first="Patrick" last="Henry">Patrick Henry</name>
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<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
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<author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ataxia Telangiectasia Mutated Proteins (genetics)</term>
<term>Dystonia (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ataxia Telangiectasia Mutated Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
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<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23640770</PMID>
<DateCreated><Year>2013</Year>
<Month>11</Month>
<Day>14</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>06</Month>
<Day>27</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>14</Day>
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<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>28</Volume>
<Issue>13</Issue>
<PubDate><Year>2013</Year>
<Month>Nov</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Isolated generalized dystonia in biallelic missense mutations of the ATM gene.</ArticleTitle>
<Pagination><MedlinePgn>1897-9</MedlinePgn>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Meissner</LastName>
<ForeName>Wassilios G</ForeName>
<Initials>WG</Initials>
<AffiliationInfo><Affiliation>Service de Neurologie, Centre Expert Parkinson et Centre Maladie Rare Atrophie Multisystématisée, Centre Hospitalier Universitaire de Bordeaux, Pessac, France; Institut des Maladies Neurodégénératives, Unité Mixte de Recherche (UMR) 5293, University de Bordeaux, Bordeaux, France; Le Centre National de la Recherche Scientifique, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.</Affiliation>
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<Author ValidYN="Y"><LastName>Tison</LastName>
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<Language>eng</Language>
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<ArticleDate DateType="Electronic"><Year>2013</Year>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber>
<NameOfSubstance UI="D064007">Ataxia Telangiectasia Mutated Proteins</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D064007" MajorTopicYN="N">Ataxia Telangiectasia Mutated Proteins</DescriptorName>
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<MeshHeading><DescriptorName UI="D004421" MajorTopicYN="N">Dystonia</DescriptorName>
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<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
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<MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName>
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<PubMedPubDate PubStatus="accepted"><Year>2013</Year>
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<PublicationStatus>ppublish</PublicationStatus>
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La maladie de Parkinson en France (serveur d'exploration)

Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

Source :

English descriptors

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki