A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
Identifieur interne : 000F23 ( Main/Exploration ); précédent : 000F22; suivant : 000F24A Korean Parkinson's disease family with the LRRK2 p.Tyr1699Cys mutation showing clinical heterogeneity.
Auteurs : Ji Sun Kim [Corée du Sud] ; Jin Whan Cho ; Hyeeun Shin ; Won Yong Lee ; Chang-Seok Ki ; Ah Ra Cho ; Hee-Tae KimSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Age of Onset, Aged, Cysteine (genetics), DNA Mutational Analysis, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Protein-Serine-Threonine Kinases (genetics), Republic of Korea, Tyrosine (genetics).
- MESH :
- chemical , genetics : Cysteine, Protein-Serine-Threonine Kinases, Tyrosine.
- geographic : Republic of Korea.
- genetics : Parkinson Disease.
- physiopathology : Parkinson Disease.
- Age of Onset, Aged, DNA Mutational Analysis, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged.
Abstract
Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies.
DOI: 10.1002/mds.24033
PubMed: 22162019
Affiliations:
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Le document en format XML
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Shin</name></author><author><name sortKey="Lee, Won Yong" sort="Lee, Won Yong" uniqKey="Lee W" first="Won Yong" last="Lee">Won Yong Lee</name></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name></author><author><name sortKey="Cho, Ah Ra" sort="Cho, Ah Ra" uniqKey="Cho A" first="Ah Ra" last="Cho">Ah Ra Cho</name></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.24033</idno><idno type="RBID">pubmed:22162019</idno><idno type="pmid">22162019</idno><idno type="wicri:Area/PubMed/Corpus">000F41</idno><idno type="wicri:Area/PubMed/Curation">000F41</idno><idno type="wicri:Area/PubMed/Checkpoint">000F83</idno><idno type="wicri:Area/Ncbi/Merge">003489</idno><idno 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type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Cho, Jin Whan" sort="Cho, Jin Whan" uniqKey="Cho J" first="Jin Whan" last="Cho">Jin Whan Cho</name></author><author><name sortKey="Shin, Hyeeun" sort="Shin, Hyeeun" uniqKey="Shin H" first="Hyeeun" last="Shin">Hyeeun Shin</name></author><author><name sortKey="Lee, Won Yong" sort="Lee, Won Yong" uniqKey="Lee W" first="Won Yong" last="Lee">Won Yong Lee</name></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name></author><author><name sortKey="Cho, Ah Ra" sort="Cho, Ah Ra" uniqKey="Cho A" first="Ah Ra" last="Cho">Ah Ra Cho</name></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</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>Age of Onset</term><term>Aged</term><term>Cysteine (genetics)</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Republic of Korea</term><term>Tyrosine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cysteine</term><term>Protein-Serine-Threonine Kinases</term><term>Tyrosine</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Republic of Korea</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Although leucine-rich repeat kinase 2 (LRRK2) is the gene most commonly linked to autosomal dominant inherited Parkinson's disease (PD), there have been few reports in Asia, probably because of population-specific differences in allele frequencies.</div></front></TEI><affiliations><list><country><li>Corée du Sud</li></country><settlement><li>Séoul</li></settlement></list><tree><noCountry><name sortKey="Cho, Ah Ra" sort="Cho, Ah Ra" uniqKey="Cho A" first="Ah Ra" last="Cho">Ah Ra Cho</name><name sortKey="Cho, Jin Whan" sort="Cho, Jin Whan" uniqKey="Cho J" first="Jin Whan" last="Cho">Jin Whan Cho</name><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><name sortKey="Lee, Won Yong" sort="Lee, Won Yong" uniqKey="Lee W" first="Won Yong" last="Lee">Won Yong Lee</name><name sortKey="Shin, Hyeeun" sort="Shin, Hyeeun" uniqKey="Shin H" first="Hyeeun" last="Shin">Hyeeun Shin</name></noCountry><country name="Corée du Sud"><noRegion><name sortKey="Kim, Ji Sun" sort="Kim, Ji Sun" uniqKey="Kim J" first="Ji Sun" last="Kim">Ji Sun Kim</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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