Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.
Identifieur interne : 006145 ( Main/Merge ); précédent : 006144; suivant : 006146Phenotypic 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 KleinSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
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.
PubMed: 11921141
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pubmed:11921141Le document en format XML
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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><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></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. 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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><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></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. 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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></imprint></series></biblStruct></sourceDesc></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></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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