MovDisordV3, PubMed, Curation, bibRecord, 000180

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Identifieur interne : 000180 ( PubMed/Curation ); précédent : 000179; suivant : 000181

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Auteurs : Michael Zech [Allemagne] ; Florian Castrop [Allemagne] ; Bernhard Haslinger [Allemagne] ; Juliane Winkelmann [Allemagne]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.

RBID : pubmed:25914261

English descriptors

KwdEn :
- DNA Copy Number Variations (genetics), Dystonic Disorders (genetics), Exome (genetics), Family Health, Female, Humans, Male, RNA-Binding Proteins (genetics).
MESH :
- chemical , genetics : RNA-Binding Proteins.
- genetics : DNA Copy Number Variations, Dystonic Disorders, Exome.
- Family Health, Female, Humans, Male.

DOI: 10.1002/mds.26233
PubMed: 25914261

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

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000180

Links to Exploration step

pubmed:25914261

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.</title>
<author><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Castrop, Florian" sort="Castrop, Florian" uniqKey="Castrop F" first="Florian" last="Castrop">Florian Castrop</name>
<affiliation wicri:level="1"><nlm:affiliation>Asklepios Stadtklinik Bad Tölz, Bad Tölz, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Asklepios Stadtklinik Bad Tölz, Bad Tölz</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Haslinger, Bernhard" sort="Haslinger, Bernhard" uniqKey="Haslinger B" first="Bernhard" last="Haslinger">Bernhard Haslinger</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2015">2015</date>
<idno type="doi">10.1002/mds.26233</idno>
<idno type="RBID">pubmed:25914261</idno>
<idno type="pmid">25914261</idno>
<idno type="wicri:Area/PubMed/Corpus">000180</idno>
<idno type="wicri:Area/PubMed/Curation">000180</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.</title>
<author><name sortKey="Zech, Michael" sort="Zech, Michael" uniqKey="Zech M" first="Michael" last="Zech">Michael Zech</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Castrop, Florian" sort="Castrop, Florian" uniqKey="Castrop F" first="Florian" last="Castrop">Florian Castrop</name>
<affiliation wicri:level="1"><nlm:affiliation>Asklepios Stadtklinik Bad Tölz, Bad Tölz, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Asklepios Stadtklinik Bad Tölz, Bad Tölz</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Haslinger, Bernhard" sort="Haslinger, Bernhard" uniqKey="Haslinger B" first="Bernhard" last="Haslinger">Bernhard Haslinger</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich</wicri:regionArea>
</affiliation>
</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="2015" type="published">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DNA Copy Number Variations (genetics)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Exome (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>RNA-Binding Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>RNA-Binding Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Copy Number Variations</term>
<term>Dystonic Disorders</term>
<term>Exome</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">25914261</PMID>
<DateCreated><Year>2015</Year>
<Month>05</Month>
<Day>20</Day>
</DateCreated>
<DateCompleted><Year>2015</Year>
<Month>07</Month>
<Day>17</Day>
</DateCompleted>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>30</Volume>
<Issue>6</Issue>
<PubDate><Year>2015</Year>
<Month>May</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.</ArticleTitle>
<Pagination><MedlinePgn>878-9</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26233</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Zech</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Castrop</LastName>
<ForeName>Florian</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>Asklepios Stadtklinik Bad Tölz, Bad Tölz, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Haslinger</LastName>
<ForeName>Bernhard</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Winkelmann</LastName>
<ForeName>Juliane</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Department of Neurology and Neurological Sciences and Center for Sleep Sciences and Medicine, Stanford University School of Medicine, Palo Alto, California, USA.</Affiliation>
</AffiliationInfo>
<AffiliationInfo><Affiliation>Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016420">Comment</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2015</Year>
<Month>04</Month>
<Day>25</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="D016601">RNA-Binding Proteins</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="CommentOn"><RefSource>Mov Disord. 2014 Oct;29(12):1504-10</RefSource>
<PMID Version="1">25142429</PMID>
</CommentsCorrections>
<CommentsCorrections RefType="CommentOn"><RefSource>Mov Disord. 2015 May;30(6):877-8</RefSource>
<PMID Version="1">25737287</PMID>
</CommentsCorrections>
</CommentsCorrectionsList>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D056915">DNA Copy Number Variations</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D059472">Exome</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D016601">RNA-Binding Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year>
<Month>3</Month>
<Day>9</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="accepted"><Year>2015</Year>
<Month>3</Month>
<Day>11</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="aheadofprint"><Year>2015</Year>
<Month>4</Month>
<Day>25</Day>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2015</Year>
<Month>4</Month>
<Day>28</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="pubmed"><Year>2015</Year>
<Month>4</Month>
<Day>29</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2015</Year>
<Month>7</Month>
<Day>18</Day>
<Hour>6</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.26233</ArticleId>
<ArticleId IdType="pubmed">25914261</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000180 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 000180 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:25914261
   |texte=   Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:25914261" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

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

	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)

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Reply to letter: Novel compound heterozygous mutations in PRKRA cause pure dystonia.

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