Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene
Identifieur interne : 004351 ( Main/Exploration ); précédent : 004350; suivant : 004352Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene
Auteurs : Peter P. Pramstaller [Italie] ; Bernhard Kis [Italie, Allemagne] ; Cordula Eskelson [Allemagne] ; Katja Hedrich [Allemagne] ; Monika Scherer [Italie] ; Eberhard Schwinger [Allemagne] ; Xandra O. Breakefield [États-Unis] ; Patricia L. Kramer [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-03.
English descriptors
- KwdEn :
- 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.
Url:
DOI: 10.1002/mds.10071
Affiliations:
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Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Regional General Hospital, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation></author><author><name sortKey="Kis, Bernhard" sort="Kis, Bernhard" uniqKey="Kis B" first="Bernhard" last="Kis">Bernhard Kis</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Regional General Hospital, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Scherer, Monika" sort="Scherer, Monika" uniqKey="Scherer M" first="Monika" last="Scherer">Monika Scherer</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Regional General Hospital, Bolzano‐Bozen</wicri:regionArea><wicri:noRegion>Bolzano‐Bozen</wicri:noRegion></affiliation></author><author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O." last="Breakefield">Xandra O. 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Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Medical University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2002-03">2002-03</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="424">424</biblScope><biblScope unit="page" to="426">426</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F9E1F40464C0CBD05E6CF46EC3C35B9835DF1D89</idno><idno type="DOI">10.1002/mds.10071</idno><idno type="ArticleID">MDS10071</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><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></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Oregon</li><li>État de New York</li></region></list><tree><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></noRegion><name sortKey="Kis, Bernhard" sort="Kis, Bernhard" uniqKey="Kis B" first="Bernhard" last="Kis">Bernhard Kis</name><name sortKey="Scherer, Monika" sort="Scherer, Monika" uniqKey="Scherer M" first="Monika" last="Scherer">Monika Scherer</name></country><country name="Allemagne"><noRegion><name sortKey="Kis, Bernhard" sort="Kis, Bernhard" uniqKey="Kis B" first="Bernhard" last="Kis">Bernhard Kis</name></noRegion><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Breakefield, Xandra O" sort="Breakefield, Xandra O" uniqKey="Breakefield X" first="Xandra O." last="Breakefield">Xandra O. Breakefield</name></region><name sortKey="Kramer, Patricia L" sort="Kramer, Patricia L" uniqKey="Kramer P" first="Patricia L." last="Kramer">Patricia L. Kramer</name><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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