Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).
Identifieur interne : 001202 ( PubMed/Checkpoint ); précédent : 001201; suivant : 001203Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).
Auteurs : Matthew A. Bower ; Khalaf Bushara ; Melissa A. Dempsey ; Soma Das ; Paul J. TuiteSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Group VI Phospholipases A2.
- genetics : Mutation, Neurodegenerative Diseases.
- methods : Magnetic Resonance Imaging.
- pathology : Neurodegenerative Diseases.
- Female, Humans, Siblings, Young Adult.
DOI: 10.1002/mds.23617
PubMed: 21520282
Affiliations:
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pubmed:21520282Le document en format XML
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Tuite</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="doi">10.1002/mds.23617</idno><idno type="RBID">pubmed:21520282</idno><idno type="pmid">21520282</idno><idno type="wicri:Area/PubMed/Corpus">001251</idno><idno type="wicri:Area/PubMed/Curation">001251</idno><idno type="wicri:Area/PubMed/Checkpoint">001202</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).</title><author><name sortKey="Bower, Matthew A" sort="Bower, Matthew A" uniqKey="Bower M" first="Matthew A" last="Bower">Matthew A. Bower</name></author><author><name sortKey="Bushara, Khalaf" sort="Bushara, Khalaf" uniqKey="Bushara K" first="Khalaf" last="Bushara">Khalaf Bushara</name></author><author><name sortKey="Dempsey, Melissa A" sort="Dempsey, Melissa A" uniqKey="Dempsey M" first="Melissa A" last="Dempsey">Melissa A. Dempsey</name></author><author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name></author><author><name sortKey="Tuite, Paul J" sort="Tuite, Paul J" uniqKey="Tuite P" first="Paul J" last="Tuite">Paul J. Tuite</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="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Female</term><term>Group VI Phospholipases A2 (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Mutation (genetics)</term><term>Neurodegenerative Diseases (genetics)</term><term>Neurodegenerative Diseases (pathology)</term><term>Siblings</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Group VI Phospholipases A2</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Neurodegenerative Diseases</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>Neurodegenerative Diseases</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Siblings</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">21520282</PMID><DateCreated><Year>2011</Year><Month>08</Month><Day>10</Day></DateCreated><DateCompleted><Year>2011</Year><Month>12</Month><Day>08</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>26</Volume><Issue>9</Issue><PubDate><Year>2011</Year><Month>Aug</Month><Day>1</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN).</ArticleTitle><Pagination><MedlinePgn>1768-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.23617</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Bower</LastName><ForeName>Matthew A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Bushara</LastName><ForeName>Khalaf</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Dempsey</LastName><ForeName>Melissa A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Das</LastName><ForeName>Soma</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Tuite</LastName><ForeName>Paul J</ForeName><Initials>PJ</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016422">Letter</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</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>EC 3.1.1.4</RegistryNumber><NameOfSubstance UI="D054522">Group VI Phospholipases A2</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.1.4</RegistryNumber><NameOfSubstance UI="C516475">PLA2G6 protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D054522">Group VI Phospholipases A2</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><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="D019636">Neurodegenerative Diseases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="aheadofprint"><Year>2011</Year><Month>4</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>4</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>4</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2011</Year><Month>12</Month><Day>13</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.23617</ArticleId><ArticleId IdType="pubmed">21520282</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Bower, Matthew A" sort="Bower, Matthew A" uniqKey="Bower M" first="Matthew A" last="Bower">Matthew A. Bower</name><name sortKey="Bushara, Khalaf" sort="Bushara, Khalaf" uniqKey="Bushara K" first="Khalaf" last="Bushara">Khalaf Bushara</name><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name><name sortKey="Dempsey, Melissa A" sort="Dempsey, Melissa A" uniqKey="Dempsey M" first="Melissa A" last="Dempsey">Melissa A. Dempsey</name><name sortKey="Tuite, Paul J" sort="Tuite, Paul J" uniqKey="Tuite P" first="Paul J" last="Tuite">Paul J. Tuite</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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