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Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Identifieur interne : 003B04 ( PubMed/Curation ); précédent : 003B03; suivant : 003B05

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Auteurs : Peter P. Pramstaller [Italie] ; Bernhard Kis ; Cordula Eskelson ; Katja Hedrich ; Monika Scherer ; Eberhard Schwinger ; Xandra O. Breakefield ; Patricia L. Kramer ; Laurie J. Ozelius ; Christine Klein

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:11921141

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Chromosome Deletion, Female, Humans, Ligases (genetics), Male, Middle Aged, Neurologic Examination, Parkinson Disease (diagnosis), Parkinson Disease (genetics), Pedigree, Phenotype, Ubiquitin-Protein Ligases.
MESH :
- chemical , genetics : Ligases.
- diagnosis : Parkinson Disease.
- genetics : Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Chromosome Deletion, Female, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Ubiquitin-Protein Ligases.

PubMed: 11921141

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Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.</title>
<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy. ppramsta@rolmail.net</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, Regional General Hospital, Bolzano-Bozen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kis, Bernhard" sort="Kis, Bernhard" uniqKey="Kis B" first="Bernhard" last="Kis">Bernhard Kis</name>
</author>
<author><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name>
</author>
<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
</author>
<author><name sortKey="Scherer, Monika" sort="Scherer, Monika" uniqKey="Scherer M" first="Monika" last="Scherer">Monika Scherer</name>
</author>
<author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
</author>
<author><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O" last="Breakefield">Xandra O. Breakefield</name>
</author>
<author><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L" last="Kramer">Patricia L. Kramer</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.</title>
<author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy. ppramsta@rolmail.net</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Neurology, Regional General Hospital, Bolzano-Bozen</wicri:regionArea>
</affiliation>
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<author><name sortKey="Kis, Bernhard" sort="Kis, Bernhard" uniqKey="Kis B" first="Bernhard" last="Kis">Bernhard Kis</name>
</author>
<author><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name>
</author>
<author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name>
</author>
<author><name sortKey="Scherer, Monika" sort="Scherer, Monika" uniqKey="Scherer M" first="Monika" last="Scherer">Monika Scherer</name>
</author>
<author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name>
</author>
<author><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O" last="Breakefield">Xandra O. Breakefield</name>
</author>
<author><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L" last="Kramer">Patricia L. Kramer</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</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="2002" type="published">2002</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosome Deletion</term>
<term>Female</term>
<term>Humans</term>
<term>Ligases (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Chromosome Deletion</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Neurologic Examination</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Ubiquitin-Protein Ligases</term>
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<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11921141</PMID>
<DateCreated><Year>2002</Year>
<Month>03</Month>
<Day>28</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>05</Month>
<Day>17</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>11</Month>
<Day>14</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
<Issue>2</Issue>
<PubDate><Year>2002</Year>
<Month>Mar</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.</ArticleTitle>
<Pagination><MedlinePgn>424-6</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pramstaller</LastName>
<ForeName>Peter P</ForeName>
<Initials>PP</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy. ppramsta@rolmail.net</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kis</LastName>
<ForeName>Bernhard</ForeName>
<Initials>B</Initials>
</Author>
<Author ValidYN="Y"><LastName>Eskelson</LastName>
<ForeName>Cordula</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hedrich</LastName>
<ForeName>Katja</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Scherer</LastName>
<ForeName>Monika</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Schwinger</LastName>
<ForeName>Eberhard</ForeName>
<Initials>E</Initials>
</Author>
<Author ValidYN="Y"><LastName>Breakefield</LastName>
<ForeName>Xandra O</ForeName>
<Initials>XO</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kramer</LastName>
<ForeName>Patricia L</ForeName>
<Initials>PL</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ozelius</LastName>
<ForeName>Laurie J</ForeName>
<Initials>LJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Klein</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
</Author>
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<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>NS38372</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
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</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 6.-</RegistryNumber>
<NameOfSubstance UI="D008025">Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="C111567">parkin protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002872">Chromosome Deletion</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008025">Ligases</DescriptorName>
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</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="D009460">Neurologic Examination</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year>
<Month>3</Month>
<Day>29</Day>
<Hour>10</Hour>
<Minute>0</Minute>
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<PubMedPubDate PubStatus="medline"><Year>2002</Year>
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<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">11921141</ArticleId>
<ArticleId IdType="pii">10.1002/mds.10071</ArticleId>
</ArticleIdList>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.

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