MovDisordV3, Ncbi, Merge, bibRecord, 002195

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.

Identifieur interne : 002195 ( Ncbi/Merge ); précédent : 002194; suivant : 002196

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.

Auteurs : Krisztina K. Johansen ; Laurence A. Bindoff ; Jana Rydland ; Jan O. Aasly

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18581472

English descriptors

KwdEn :
- Adult, DNA Mutational Analysis, DNA-Directed DNA Polymerase (genetics), Dyskinesias (complications), Dyskinesias (genetics), Dyskinesias (pathology), Female, Humans, Magnetic Resonance Imaging (methods), Mutation (genetics), Tremor (complications), Tremor (genetics), Tremor (pathology).
MESH :
- chemical , genetics : DNA-Directed DNA Polymerase.
- complications : Dyskinesias, Tremor.
- genetics : Dyskinesias, Mutation, Tremor.
- methods : Magnetic Resonance Imaging.
- pathology : Dyskinesias, Tremor.
- Adult, DNA Mutational Analysis, Female, Humans.

DOI: 10.1002/mds.22178
PubMed: 18581472

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

to stream PubMed, to step Corpus: 002168
to stream PubMed, to step Curation: 002168
to stream PubMed, to step Checkpoint: 002167

Links to Exploration step

pubmed:18581472

Le document en format XML

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<author><name sortKey="Johansen, Krisztina K" sort="Johansen, Krisztina K" uniqKey="Johansen K" first="Krisztina K" last="Johansen">Krisztina K. Johansen</name>
</author>
<author><name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A" last="Bindoff">Laurence A. Bindoff</name>
</author>
<author><name sortKey="Rydland, Jana" sort="Rydland, Jana" uniqKey="Rydland J" first="Jana" last="Rydland">Jana Rydland</name>
</author>
<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.</title>
<author><name sortKey="Johansen, Krisztina K" sort="Johansen, Krisztina K" uniqKey="Johansen K" first="Krisztina K" last="Johansen">Krisztina K. Johansen</name>
</author>
<author><name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A" last="Bindoff">Laurence A. Bindoff</name>
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<author><name sortKey="Rydland, Jana" sort="Rydland, Jana" uniqKey="Rydland J" first="Jana" last="Rydland">Jana Rydland</name>
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<author><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</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>Adult</term>
<term>DNA Mutational Analysis</term>
<term>DNA-Directed DNA Polymerase (genetics)</term>
<term>Dyskinesias (complications)</term>
<term>Dyskinesias (genetics)</term>
<term>Dyskinesias (pathology)</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Mutation (genetics)</term>
<term>Tremor (complications)</term>
<term>Tremor (genetics)</term>
<term>Tremor (pathology)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Directed DNA Polymerase</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dyskinesias</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dyskinesias</term>
<term>Mutation</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Dyskinesias</term>
<term>Tremor</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Humans</term>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">18581472</PMID>
<DateCreated><Year>2008</Year>
<Month>10</Month>
<Day>02</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>04</Month>
<Day>08</Day>
</DateCompleted>
<Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>23</Volume>
<Issue>11</Issue>
<PubDate><Year>2008</Year>
<Month>Aug</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.</ArticleTitle>
<Pagination><MedlinePgn>1624-6</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22178</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Johansen</LastName>
<ForeName>Krisztina K</ForeName>
<Initials>KK</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bindoff</LastName>
<ForeName>Laurence A</ForeName>
<Initials>LA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Rydland</LastName>
<ForeName>Jana</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y"><LastName>Aasly</LastName>
<ForeName>Jan O</ForeName>
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</Author>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016422">Letter</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.7.-</RegistryNumber>
<NameOfSubstance UI="C413027">POLG protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 2.7.7.7</RegistryNumber>
<NameOfSubstance UI="D004259">DNA-Directed DNA Polymerase</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004259">DNA-Directed DNA Polymerase</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020820">Dyskinesias</DescriptorName>
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<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName>
</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="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year>
<Month>6</Month>
<Day>27</Day>
<Hour>9</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2009</Year>
<Month>4</Month>
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<PubMedPubDate PubStatus="entrez"><Year>2008</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.22178</ArticleId>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Aasly, Jan O" sort="Aasly, Jan O" uniqKey="Aasly J" first="Jan O" last="Aasly">Jan O. Aasly</name>
<name sortKey="Bindoff, Laurence A" sort="Bindoff, Laurence A" uniqKey="Bindoff L" first="Laurence A" last="Bindoff">Laurence A. Bindoff</name>
<name sortKey="Johansen, Krisztina K" sort="Johansen, Krisztina K" uniqKey="Johansen K" first="Krisztina K" last="Johansen">Krisztina K. Johansen</name>
<name sortKey="Rydland, Jana" sort="Rydland, Jana" uniqKey="Rydland J" first="Jana" last="Rydland">Jana Rydland</name>
</noCountry>
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</record>

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	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.

Movement Disorders (revue)

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.

Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.

Source :

English descriptors

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

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