La maladie de Parkinson en France (serveur d'exploration)

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Identifieur interne : 000877 ( PubMed/Corpus ); précédent : 000876; suivant : 000878

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Auteurs : S. Lesage ; C. Condroyer ; S. Klebe ; A. Honoré ; F. Tison ; C. Brefel-Courbon ; A. Dürr ; A. Brice

Source :

RBID : pubmed:22517097

English descriptors


DOI: 10.1212/WNL.0b013e318253d5f2
PubMed: 22517097

Links to Exploration step

pubmed:22517097

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">Identification of VPS35 mutations replicated in French families with Parkinson disease.</title>
<author>
<name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation>
<nlm:affiliation>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse, France.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author>
<name sortKey="Klebe, S" sort="Klebe, S" uniqKey="Klebe S" first="S" last="Klebe">S. Klebe</name>
</author>
<author>
<name sortKey="Honore, A" sort="Honore, A" uniqKey="Honore A" first="A" last="Honoré">A. Honoré</name>
</author>
<author>
<name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name>
</author>
<author>
<name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. Brefel-Courbon</name>
</author>
<author>
<name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author>
<name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="2012">2012</date>
<idno type="RBID">pubmed:22517097</idno>
<idno type="pmid">22517097</idno>
<idno type="doi">10.1212/WNL.0b013e318253d5f2</idno>
<idno type="wicri:Area/PubMed/Corpus">000877</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000877</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">Identification of VPS35 mutations replicated in French families with Parkinson disease.</title>
<author>
<name sortKey="Lesage, S" sort="Lesage, S" uniqKey="Lesage S" first="S" last="Lesage">S. Lesage</name>
<affiliation>
<nlm:affiliation>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse, France.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Condroyer, C" sort="Condroyer, C" uniqKey="Condroyer C" first="C" last="Condroyer">C. Condroyer</name>
</author>
<author>
<name sortKey="Klebe, S" sort="Klebe, S" uniqKey="Klebe S" first="S" last="Klebe">S. Klebe</name>
</author>
<author>
<name sortKey="Honore, A" sort="Honore, A" uniqKey="Honore A" first="A" last="Honoré">A. Honoré</name>
</author>
<author>
<name sortKey="Tison, F" sort="Tison, F" uniqKey="Tison F" first="F" last="Tison">F. Tison</name>
</author>
<author>
<name sortKey="Brefel Courbon, C" sort="Brefel Courbon, C" uniqKey="Brefel Courbon C" first="C" last="Brefel-Courbon">C. Brefel-Courbon</name>
</author>
<author>
<name sortKey="Durr, A" sort="Durr, A" uniqKey="Durr A" first="A" last="Dürr">A. Dürr</name>
</author>
<author>
<name sortKey="Brice, A" sort="Brice, A" uniqKey="Brice A" first="A" last="Brice">A. Brice</name>
</author>
</analytic>
<series>
<title level="j">Neurology</title>
<idno type="eISSN">1526-632X</idno>
<imprint>
<date when="2012" type="published">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>France</term>
<term>Genetic Testing</term>
<term>Genetic Variation (genetics)</term>
<term>Genetics, Population</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense (genetics)</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Vesicular Transport Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Vesicular Transport Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en">
<term>France</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en">
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Genetic Variation</term>
<term>Mutation, Missense</term>
<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adult</term>
<term>Aged</term>
<term>Alleles</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Testing</term>
<term>Genetics, Population</term>
<term>Haplotypes</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">22517097</PMID>
<DateCreated>
<Year>2012</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted>
<Year>2012</Year>
<Month>06</Month>
<Day>27</Day>
</DateCompleted>
<DateRevised>
<Year>2012</Year>
<Month>05</Month>
<Day>01</Day>
</DateRevised>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1526-632X</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>78</Volume>
<Issue>18</Issue>
<PubDate>
<Year>2012</Year>
<Month>May</Month>
<Day>01</Day>
</PubDate>
</JournalIssue>
<Title>Neurology</Title>
<ISOAbbreviation>Neurology</ISOAbbreviation>
</Journal>
<ArticleTitle>Identification of VPS35 mutations replicated in French families with Parkinson disease.</ArticleTitle>
<Pagination>
<MedlinePgn>1449-50</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1212/WNL.0b013e318253d5f2</ELocationID>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Lesage</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
<AffiliationInfo>
<Affiliation>Centre de Recherche de l’Institut du Cerveau et de la Moelle épinière, Toulouse, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Condroyer</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Klebe</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Honoré</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Tison</LastName>
<ForeName>F</ForeName>
<Initials>F</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Brefel-Courbon</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Dürr</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Brice</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y">
<CollectiveName>French Parkinson's Disease Genetics Study Group</CollectiveName>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2012</Year>
<Month>04</Month>
<Day>18</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo>
<Country>United States</Country>
<MedlineTA>Neurology</MedlineTA>
<NlmUniqueID>0401060</NlmUniqueID>
<ISSNLinking>0028-3878</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C419573">VPS35 protein, human</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D033921">Vesicular Transport Proteins</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList>
<MeshHeading>
<DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D004252" MajorTopicYN="Y">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005602" MajorTopicYN="N" Type="Geographic">France</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D014644" MajorTopicYN="N">Genetic Variation</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005828" MajorTopicYN="Y">Genetics, Population</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006580" MajorTopicYN="N">Heterozygote Detection</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName>
<QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D033921" MajorTopicYN="N">Vesicular Transport Proteins</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
<InvestigatorList>
<Investigator ValidYN="Y">
<LastName>Agid</LastName>
<ForeName>Yves</ForeName>
<Initials>Y</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Anheim</LastName>
<ForeName>Mathieu</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Bonnet</LastName>
<ForeName>A -M</ForeName>
<Initials>A-</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Borg</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Brice</LastName>
<ForeName>Alexis</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Broussolle</LastName>
<ForeName>Emmanuel</ForeName>
<Initials>E</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Corvol</LastName>
<ForeName>Jean-Christophe</ForeName>
<Initials>JC</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Damier</LastName>
<ForeName>Philippe</ForeName>
<Initials>P</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Destée</LastName>
<ForeName>Alain</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Dürr</LastName>
<ForeName>Alexandra</ForeName>
<Initials>A</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Durif</LastName>
<ForeName>Franck</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Klebe</LastName>
<ForeName>Stephan</ForeName>
<Initials>S</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Lesage</LastName>
<ForeName>Suzanne</ForeName>
<Initials>S</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Lohmann</LastName>
<ForeName>Ebba</ForeName>
<Initials>E</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Martinez</LastName>
<ForeName>Maria</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Penet</LastName>
<ForeName>Christiane</ForeName>
<Initials>C</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Pollak</LastName>
<ForeName>Pierre</ForeName>
<Initials>P</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Rascol</LastName>
<ForeName>Olivier</ForeName>
<Initials>O</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Tison</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Tranchant</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Vérin</LastName>
<ForeName>Marc</ForeName>
<Initials>M</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Viallet</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
</Investigator>
<Investigator ValidYN="Y">
<LastName>Vidailhet</LastName>
<ForeName>Marie</ForeName>
<Initials>M</Initials>
</Investigator>
</InvestigatorList>
</MedlineCitation>
<PubmedData>
<History>
<PubMedPubDate PubStatus="entrez">
<Year>2012</Year>
<Month>4</Month>
<Day>21</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed">
<Year>2012</Year>
<Month>4</Month>
<Day>21</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline">
<Year>2012</Year>
<Month>6</Month>
<Day>28</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList>
<ArticleId IdType="pubmed">22517097</ArticleId>
<ArticleId IdType="pii">WNL.0b013e318253d5f2</ArticleId>
<ArticleId IdType="doi">10.1212/WNL.0b013e318253d5f2</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000877 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 000877 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    ParkinsonFranceV1
   |flux=    PubMed
   |étape=   Corpus
   |type=    RBID
   |clé=     pubmed:22517097
   |texte=   Identification of VPS35 mutations replicated in French families with Parkinson disease.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i   -Sk "pubmed:22517097" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd   \
       | NlmPubMed2Wicri -a ParkinsonFranceV1 

Wicri

This area was generated with Dilib version V0.6.29.
Data generation: Wed May 17 19:46:39 2017. Site generation: Mon Mar 4 15:48:15 2024