Movement Disorders (revue)

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.

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.

Identifieur interne : 000B41 ( PubMed/Checkpoint ); précédent : 000B40; suivant : 000B42

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.

Auteurs : Anna Molloy ; Okka Kimmich ; Joanne Martindale ; Helena Moore ; Michael Hutchinson ; Sean O'Riordan

Source :

RBID : pubmed:23696109

English descriptors


DOI: 10.1002/mds.25489
PubMed: 23696109


Affiliations:


Links toward previous steps (curation, corpus...)


Links to Exploration step

pubmed:23696109

Le document en format XML

<record>
<TEI>
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.</title>
<author>
<name sortKey="Molloy, Anna" sort="Molloy, Anna" uniqKey="Molloy A" first="Anna" last="Molloy">Anna Molloy</name>
</author>
<author>
<name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
</author>
<author>
<name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
</author>
<author>
<name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
</author>
<author>
<name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
</author>
<author>
<name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">PubMed</idno>
<date when="2013">2013</date>
<idno type="doi">10.1002/mds.25489</idno>
<idno type="RBID">pubmed:23696109</idno>
<idno type="pmid">23696109</idno>
<idno type="wicri:Area/PubMed/Corpus">000900</idno>
<idno type="wicri:Area/PubMed/Curation">000900</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000B41</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title xml:lang="en">A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.</title>
<author>
<name sortKey="Molloy, Anna" sort="Molloy, Anna" uniqKey="Molloy A" first="Anna" last="Molloy">Anna Molloy</name>
</author>
<author>
<name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
</author>
<author>
<name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
</author>
<author>
<name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
</author>
<author>
<name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
</author>
<author>
<name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
</author>
</analytic>
<series>
<title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="eISSN">1531-8257</idno>
<imprint>
<date when="2013" type="published">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Brain (pathology)</term>
<term>Calcium Channels (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Tremor (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Calcium Channels</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Mutation</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en">
<term>Brain</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed>
<MedlineCitation Owner="NLM" Status="MEDLINE">
<PMID Version="1">23696109</PMID>
<DateCreated>
<Year>2013</Year>
<Month>06</Month>
<Day>26</Day>
</DateCreated>
<DateCompleted>
<Year>2014</Year>
<Month>01</Month>
<Day>30</Day>
</DateCompleted>
<Article PubModel="Print-Electronic">
<Journal>
<ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet">
<Volume>28</Volume>
<Issue>6</Issue>
<PubDate>
<Year>2013</Year>
<Month>Jun</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.</ArticleTitle>
<Pagination>
<MedlinePgn>842-3</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25489</ELocationID>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Molloy</LastName>
<ForeName>Anna</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Kimmich</LastName>
<ForeName>Okka</ForeName>
<Initials>O</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Martindale</LastName>
<ForeName>Joanne</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Moore</LastName>
<ForeName>Helena</ForeName>
<Initials>H</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Hutchinson</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y">
<LastName>O'Riordan</LastName>
<ForeName>Sean</ForeName>
<Initials>S</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList>
<PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic">
<Year>2013</Year>
<Month>05</Month>
<Day>21</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo>
<Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C105656">CACNA1A protein, human</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D015220">Calcium Channels</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D015220">Calcium Channels</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData>
<History>
<PubMedPubDate PubStatus="received">
<Year>2012</Year>
<Month>12</Month>
<Day>18</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="revised">
<Year>2013</Year>
<Month>2</Month>
<Day>7</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted">
<Year>2013</Year>
<Month>4</Month>
<Day>1</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint">
<Year>2013</Year>
<Month>5</Month>
<Day>21</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez">
<Year>2013</Year>
<Month>5</Month>
<Day>23</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed">
<Year>2013</Year>
<Month>5</Month>
<Day>23</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline">
<Year>2014</Year>
<Month>1</Month>
<Day>31</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList>
<ArticleId IdType="doi">10.1002/mds.25489</ArticleId>
<ArticleId IdType="pubmed">23696109</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations>
<list></list>
<tree>
<noCountry>
<name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<name sortKey="Kimmich, Okka" sort="Kimmich, Okka" uniqKey="Kimmich O" first="Okka" last="Kimmich">Okka Kimmich</name>
<name sortKey="Martindale, Joanne" sort="Martindale, Joanne" uniqKey="Martindale J" first="Joanne" last="Martindale">Joanne Martindale</name>
<name sortKey="Molloy, Anna" sort="Molloy, Anna" uniqKey="Molloy A" first="Anna" last="Molloy">Anna Molloy</name>
<name sortKey="Moore, Helena" sort="Moore, Helena" uniqKey="Moore H" first="Helena" last="Moore">Helena Moore</name>
<name sortKey="O Riordan, Sean" sort="O Riordan, Sean" uniqKey="O Riordan S" first="Sean" last="O'Riordan">Sean O'Riordan</name>
</noCountry>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B41 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 000B41 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Checkpoint
   |type=    RBID
   |clé=     pubmed:23696109
   |texte=   A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i   -Sk "pubmed:23696109" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3 

Wicri

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024