Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela
Identifieur interne : 004731 ( Main/Merge ); précédent : 004730; suivant : 004732Glucocerebrosidase mutations are also found in subjects with early‐onset parkinsonism from Venezuela
Auteurs : Michael J. Eblan [États-Unis] ; Joann Nguyen [États-Unis] ; Shira G. Ziegler [États-Unis] ; Alicia Lwin [États-Unis] ; Melissa Hanson [États-Unis] ; Marisol Gallardo [Venezuela] ; Roberto Weiser [Venezuela] ; Marisel De Lucca [Venezuela] ; Andrew Singleton [États-Unis] ; Ellen Sidransky [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-02.
English descriptors
- KwdEn :
- Alleles, Cohort Studies, DNA Mutational Analysis, Ethnic Groups (genetics), Founder Effect, Gaucher Disease (diagnosis), Gaucher Disease (genetics), Gene Frequency, Genetic Testing, Glucosylceramidase (genetics), Humans, Jews (genetics), Parkinson Disease (diagnosis), Parkinson Disease (genetics), Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Polymorphism, Genetic (genetics), Reference Values, Venezuela.
- MESH :
- chemical , genetics : Glucosylceramidase.
- geographic : Venezuela.
- diagnosis : Gaucher Disease, Parkinson Disease, Parkinsonian Disorders.
- genetics : Ethnic Groups, Gaucher Disease, Jews, Parkinson Disease, Parkinsonian Disorders, Polymorphism, Genetic.
- Alleles, Cohort Studies, DNA Mutational Analysis, Founder Effect, Gene Frequency, Genetic Testing, Humans, Reference Values.
Url:
DOI: 10.1002/mds.20766
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.</title>
<author><name sortKey="Eblan, Michael J" sort="Eblan, Michael J" uniqKey="Eblan M" first="Michael J" last="Eblan">Michael J. Eblan</name>
</author>
<author><name sortKey="Nguyen, Joann" sort="Nguyen, Joann" uniqKey="Nguyen J" first="Joann" last="Nguyen">Joann Nguyen</name>
</author>
<author><name sortKey="Ziegler, Shira G" sort="Ziegler, Shira G" uniqKey="Ziegler S" first="Shira G" last="Ziegler">Shira G. Ziegler</name>
</author>
<author><name sortKey="Lwin, Alicia" sort="Lwin, Alicia" uniqKey="Lwin A" first="Alicia" last="Lwin">Alicia Lwin</name>
</author>
<author><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name>
</author>
<author><name sortKey="Gallardo, Marisol" sort="Gallardo, Marisol" uniqKey="Gallardo M" first="Marisol" last="Gallardo">Marisol Gallardo</name>
</author>
<author><name sortKey="Weiser, Roberto" sort="Weiser, Roberto" uniqKey="Weiser R" first="Roberto" last="Weiser">Roberto Weiser</name>
</author>
<author><name sortKey="De Lucca, Marisel" sort="De Lucca, Marisel" uniqKey="De Lucca M" first="Marisel" last="De Lucca">Marisel De Lucca</name>
</author>
<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
</author>
<author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</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="2006" type="published">2006</date>
</imprint>
</series>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Ethnic Groups (genetics)</term>
<term>Founder Effect</term>
<term>Gaucher Disease (diagnosis)</term>
<term>Gaucher Disease (genetics)</term>
<term>Gene Frequency</term>
<term>Genetic Testing</term>
<term>Glucosylceramidase (genetics)</term>
<term>Humans</term>
<term>Jews (genetics)</term>
<term>Parkinson Disease (diagnosis)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinsonian Disorders (diagnosis)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Reference Values</term>
<term>Venezuela</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glucosylceramidase</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Venezuela</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gaucher Disease</term>
<term>Parkinson Disease</term>
<term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Ethnic Groups</term>
<term>Gaucher Disease</term>
<term>Jews</term>
<term>Parkinson Disease</term>
<term>Parkinsonian Disorders</term>
<term>Polymorphism, Genetic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Cohort Studies</term>
<term>DNA Mutational Analysis</term>
<term>Founder Effect</term>
<term>Gene Frequency</term>
<term>Genetic Testing</term>
<term>Humans</term>
<term>Reference Values</term>
</keywords>
</textClass>
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