McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Identifieur interne : 003E38 ( PubMed/Corpus ); précédent : 003E37; suivant : 003E39McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
Auteurs : M T Dotti ; C. Battisti ; A. Malandrini ; A. Federico ; J P Rubio ; G. Circiarello ; A P MonacoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- MESH :
- diagnosis : Chorea.
- genetics : Chorea, Genetic Linkage, Movement Disorders, X Chromosome.
- DNA Mutational Analysis, Diagnosis, Differential, Humans, Male, Middle Aged, Point Mutation, Severity of Illness Index, Syndrome.
PubMed: 11104227
Links to Exploration step
pubmed:11104227Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.</title>
<author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name>
<affiliation><nlm:affiliation>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Battisti, C" sort="Battisti, C" uniqKey="Battisti C" first="C" last="Battisti">C. Battisti</name>
</author>
<author><name sortKey="Malandrini, A" sort="Malandrini, A" uniqKey="Malandrini A" first="A" last="Malandrini">A. Malandrini</name>
</author>
<author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name>
</author>
<author><name sortKey="Rubio, J P" sort="Rubio, J P" uniqKey="Rubio J" first="J P" last="Rubio">J P Rubio</name>
</author>
<author><name sortKey="Circiarello, G" sort="Circiarello, G" uniqKey="Circiarello G" first="G" last="Circiarello">G. Circiarello</name>
</author>
<author><name sortKey="Monaco, A P" sort="Monaco, A P" uniqKey="Monaco A" first="A P" last="Monaco">A P Monaco</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.</title>
<author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name>
<affiliation><nlm:affiliation>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Battisti, C" sort="Battisti, C" uniqKey="Battisti C" first="C" last="Battisti">C. Battisti</name>
</author>
<author><name sortKey="Malandrini, A" sort="Malandrini, A" uniqKey="Malandrini A" first="A" last="Malandrini">A. Malandrini</name>
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<author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name>
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<author><name sortKey="Rubio, J P" sort="Rubio, J P" uniqKey="Rubio J" first="J P" last="Rubio">J P Rubio</name>
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<author><name sortKey="Circiarello, G" sort="Circiarello, G" uniqKey="Circiarello G" first="G" last="Circiarello">G. Circiarello</name>
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<author><name sortKey="Monaco, A P" sort="Monaco, A P" uniqKey="Monaco A" first="A P" last="Monaco">A P Monaco</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2000" type="published">2000</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Genetic Linkage (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Movement Disorders (genetics)</term>
<term>Point Mutation</term>
<term>Severity of Illness Index</term>
<term>Syndrome</term>
<term>X Chromosome (genetics)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Chorea</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term>
<term>Genetic Linkage</term>
<term>Movement Disorders</term>
<term>X Chromosome</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Point Mutation</term>
<term>Severity of Illness Index</term>
<term>Syndrome</term>
</keywords>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11104227</PMID>
<DateCreated><Year>2001</Year>
<Month>03</Month>
<Day>07</Day>
</DateCreated>
<DateCompleted><Year>2001</Year>
<Month>05</Month>
<Day>31</Day>
</DateCompleted>
<DateRevised><Year>2010</Year>
<Month>11</Month>
<Day>18</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>15</Volume>
<Issue>6</Issue>
<PubDate><Year>2000</Year>
<Month>Nov</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.</ArticleTitle>
<Pagination><MedlinePgn>1282-4</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dotti</LastName>
<ForeName>M T</ForeName>
<Initials>MT</Initials>
<AffiliationInfo><Affiliation>Unit of Metabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.</Affiliation>
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<Author ValidYN="Y"><LastName>Battisti</LastName>
<ForeName>C</ForeName>
<Initials>C</Initials>
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<Author ValidYN="Y"><LastName>Malandrini</LastName>
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<Author ValidYN="Y"><LastName>Federico</LastName>
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<Author ValidYN="Y"><LastName>Rubio</LastName>
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<Author ValidYN="Y"><LastName>Circiarello</LastName>
<ForeName>G</ForeName>
<Initials>G</Initials>
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<Author ValidYN="Y"><LastName>Monaco</LastName>
<ForeName>A P</ForeName>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
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<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
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<MedlineJournalInfo><Country>UNITED STATES</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009069">Movement Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017354">Point Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014960">X Chromosome</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2000</Year>
<Month>12</Month>
<Day>5</Day>
<Hour>11</Hour>
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<PubMedPubDate PubStatus="medline"><Year>2001</Year>
<Month>6</Month>
<Day>2</Day>
<Hour>10</Hour>
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<PubMedPubDate PubStatus="entrez"><Year>2000</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">11104227</ArticleId>
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