Phenotypic variability of parkin mutations in single kindred.
Identifieur interne : 000C61 ( Main/Exploration ); précédent : 000C60; suivant : 000C62Phenotypic variability of parkin mutations in single kindred.
Auteurs : Brianada Koentjoro [Australie] ; Jin-Sung Park ; Ainhi Duy Ha ; Carolyn M. SueSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- genetics : Mutation, Parkinson Disease.
- metabolism : Fibroblasts.
- pathology : Parkinson Disease, Skin.
- Aged, DNA Mutational Analysis, Family Health, Female, Humans, Young Adult.
Abstract
Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin.
DOI: 10.1002/mds.25041
PubMed: 22807239
Affiliations:
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Le document en format XML
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Sue</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25041</idno><idno type="RBID">pubmed:22807239</idno><idno type="pmid">22807239</idno><idno type="wicri:Area/PubMed/Corpus">000C98</idno><idno type="wicri:Area/PubMed/Curation">000C98</idno><idno type="wicri:Area/PubMed/Checkpoint">000C87</idno><idno type="wicri:Area/Ncbi/Merge">003748</idno><idno type="wicri:Area/Ncbi/Curation">003748</idno><idno type="wicri:Area/Ncbi/Checkpoint">003748</idno><idno type="wicri:Area/Main/Merge">000C77</idno><idno type="wicri:Area/Main/Curation">000C61</idno><idno type="wicri:Area/Main/Exploration">000C61</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variability of parkin mutations in single kindred.</title><author><name sortKey="Koentjoro, Brianada" sort="Koentjoro, Brianada" uniqKey="Koentjoro B" first="Brianada" last="Koentjoro">Brianada Koentjoro</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Park, Jin Sung" sort="Park, Jin Sung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name></author><author><name sortKey="Ha, Ainhi Duy" sort="Ha, Ainhi Duy" uniqKey="Ha A" first="Ainhi Duy" last="Ha">Ainhi Duy Ha</name></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Fibroblasts (metabolism)</term><term>Humans</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Skin (pathology)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fibroblasts</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term><term>Skin</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin.</div></front></TEI><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><name sortKey="Ha, Ainhi Duy" sort="Ha, Ainhi Duy" uniqKey="Ha A" first="Ainhi Duy" last="Ha">Ainhi Duy Ha</name><name sortKey="Park, Jin Sung" sort="Park, Jin Sung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M" last="Sue">Carolyn M. Sue</name></noCountry><country name="Australie"><noRegion><name sortKey="Koentjoro, Brianada" sort="Koentjoro, Brianada" uniqKey="Koentjoro B" first="Brianada" last="Koentjoro">Brianada Koentjoro</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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