Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Identifieur interne : 003E86 ( PubMed/Corpus ); précédent : 003E85; suivant : 003E87Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Auteurs : M T Dotti ; A. Federico ; R. Garuti ; S. CalandraSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- Blotting, Southern, Cholestanetriol 26-Monooxygenase, Cytochrome P-450 Enzyme System (genetics), Homozygote, Humans, Lipid Metabolism, Inborn Errors (genetics), Male, Middle Aged, Mutation, Missense, Parkinsonian Disorders (enzymology), Parkinsonian Disorders (genetics), Polymorphism, Single-Stranded Conformational, Steroid Hydroxylases (genetics), Xanthomatosis, Cerebrotendinous (complications), Xanthomatosis, Cerebrotendinous (enzymology), Xanthomatosis, Cerebrotendinous (genetics).
- MESH :
- chemical , genetics : Cytochrome P-450 Enzyme System, Steroid Hydroxylases.
- chemical : Cholestanetriol 26-Monooxygenase.
- complications : Xanthomatosis, Cerebrotendinous.
- enzymology : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- genetics : Lipid Metabolism, Inborn Errors, Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- Blotting, Southern, Homozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single-Stranded Conformational.
PubMed: 11009219
Links to Exploration step
pubmed:11009219Le document en format XML
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Calandra</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:11009219</idno><idno type="pmid">11009219</idno><idno type="wicri:Area/PubMed/Corpus">003E86</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.</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>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name></author><author><name sortKey="Garuti, R" sort="Garuti, R" uniqKey="Garuti R" first="R" last="Garuti">R. Garuti</name></author><author><name sortKey="Calandra, S" sort="Calandra, S" uniqKey="Calandra S" first="S" last="Calandra">S. Calandra</name></author></analytic><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></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blotting, Southern</term><term>Cholestanetriol 26-Monooxygenase</term><term>Cytochrome P-450 Enzyme System (genetics)</term><term>Homozygote</term><term>Humans</term><term>Lipid Metabolism, Inborn Errors (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Parkinsonian Disorders (enzymology)</term><term>Parkinsonian Disorders (genetics)</term><term>Polymorphism, Single-Stranded Conformational</term><term>Steroid Hydroxylases (genetics)</term><term>Xanthomatosis, Cerebrotendinous (complications)</term><term>Xanthomatosis, Cerebrotendinous (enzymology)</term><term>Xanthomatosis, Cerebrotendinous (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 Enzyme System</term><term>Steroid Hydroxylases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Cholestanetriol 26-Monooxygenase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lipid Metabolism, Inborn Errors</term><term>Parkinsonian Disorders</term><term>Xanthomatosis, Cerebrotendinous</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Blotting, Southern</term><term>Homozygote</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation, Missense</term><term>Polymorphism, Single-Stranded Conformational</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11009219</PMID><DateCreated><Year>2001</Year><Month>01</Month><Day>09</Day></DateCreated><DateCompleted><Year>2001</Year><Month>01</Month><Day>09</Day></DateCompleted><DateRevised><Year>2012</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>15</Volume><Issue>5</Issue><PubDate><Year>2000</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.</ArticleTitle><Pagination><MedlinePgn>1017-9</MedlinePgn></Pagination><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Dotti</LastName><ForeName>M T</ForeName><Initials>MT</Initials><AffiliationInfo><Affiliation>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Federico</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Garuti</LastName><ForeName>R</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Calandra</LastName><ForeName>S</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>9035-51-2</RegistryNumber><NameOfSubstance UI="D003577">Cytochrome P-450 Enzyme System</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 1.14.-</RegistryNumber><NameOfSubstance UI="D013250">Steroid Hydroxylases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 1.14.13.15</RegistryNumber><NameOfSubstance UI="C506831">CYP27A1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 1.14.13.15</RegistryNumber><NameOfSubstance UI="D053493">Cholestanetriol 26-Monooxygenase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Mov Disord. 2002 Nov;17(6):1396-7</RefSource><PMID Version="1">12465096</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015139">Blotting, Southern</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D053493">Cholestanetriol 26-Monooxygenase</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003577">Cytochrome P-450 Enzyme System</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006720">Homozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008052">Lipid Metabolism, Inborn Errors</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020125">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000201">enzymology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018807">Polymorphism, Single-Stranded Conformational</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013250">Steroid Hydroxylases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019294">Xanthomatosis, Cerebrotendinous</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000201">enzymology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2000</Year><Month>9</Month><Day>29</Day><Hour>11</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2001</Year><Month>2</Month><Day>28</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2000</Year><Month>9</Month><Day>29</Day><Hour>11</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11009219</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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