MovDisordV3, Ncbi, Merge, bibRecord, 001524

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Identifieur interne : 001524 ( Ncbi/Merge ); précédent : 001523; suivant : 001525

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Auteurs : Michael J. Eblan ; Joann Nguyen ; Shira G. Ziegler ; Alicia Lwin ; Melissa Hanson ; Marisol Gallardo ; Roberto Weiser ; Marisel De Lucca ; Andrew Singleton ; Ellen Sidransky

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.

RBID : pubmed:16261622

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.

DOI: 10.1002/mds.20766
PubMed: 16261622

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to stream PubMed, to step Curation: 002E05
to stream PubMed, to step Checkpoint: 002D08

Links to Exploration step

pubmed:16261622

Le document en format XML

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<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>
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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>
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<author><name sortKey="Nguyen, Joann" sort="Nguyen, Joann" uniqKey="Nguyen J" first="Joann" last="Nguyen">Joann Nguyen</name>
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<author><name sortKey="Ziegler, Shira G" sort="Ziegler, Shira G" uniqKey="Ziegler S" first="Shira G" last="Ziegler">Shira G. Ziegler</name>
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<author><name sortKey="Lwin, Alicia" sort="Lwin, Alicia" uniqKey="Lwin A" first="Alicia" last="Lwin">Alicia Lwin</name>
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<author><name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name>
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<author><name sortKey="Gallardo, Marisol" sort="Gallardo, Marisol" uniqKey="Gallardo M" first="Marisol" last="Gallardo">Marisol Gallardo</name>
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<author><name sortKey="Weiser, Roberto" sort="Weiser, Roberto" uniqKey="Weiser R" first="Roberto" last="Weiser">Roberto Weiser</name>
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<author><name sortKey="De Lucca, Marisel" sort="De Lucca, Marisel" uniqKey="De Lucca M" first="Marisel" last="De Lucca">Marisel De Lucca</name>
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<author><name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<imprint><date when="2006" type="published">2006</date>
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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>
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<Month>02</Month>
<Day>16</Day>
</DateCreated>
<DateCompleted><Year>2006</Year>
<Month>09</Month>
<Day>25</Day>
</DateCompleted>
<DateRevised><Year>2009</Year>
<Month>11</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>21</Volume>
<Issue>2</Issue>
<PubDate><Year>2006</Year>
<Month>Feb</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.</ArticleTitle>
<Pagination><MedlinePgn>282-3</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Eblan</LastName>
<ForeName>Michael J</ForeName>
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<Author ValidYN="Y"><LastName>Nguyen</LastName>
<ForeName>Joann</ForeName>
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<Author ValidYN="Y"><LastName>Ziegler</LastName>
<ForeName>Shira G</ForeName>
<Initials>SG</Initials>
</Author>
<Author ValidYN="Y"><LastName>Lwin</LastName>
<ForeName>Alicia</ForeName>
<Initials>A</Initials>
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<Author ValidYN="Y"><LastName>Hanson</LastName>
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<Author ValidYN="Y"><LastName>Gallardo</LastName>
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<Author ValidYN="Y"><LastName>Weiser</LastName>
<ForeName>Roberto</ForeName>
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<Author ValidYN="Y"><LastName>De Lucca</LastName>
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<Author ValidYN="Y"><LastName>Singleton</LastName>
<ForeName>Andrew</ForeName>
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</Author>
<Author ValidYN="Y"><LastName>Sidransky</LastName>
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<Initials>E</Initials>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016420">Comment</PublicationType>
<PublicationType UI="D003160">Comparative Study</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>EC 3.2.1.45</RegistryNumber>
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<CitationSubset>IM</CitationSubset>
<CommentsCorrectionsList><CommentsCorrections RefType="CommentOn"><RefSource>Mov Disord. 2005 Jan;20(1):100-3</RefSource>
<PMID Version="1">15517591</PMID>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005006">Ethnic Groups</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018703">Founder Effect</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005776">Gaucher Disease</DescriptorName>
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</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005820">Genetic Testing</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005962">Glucosylceramidase</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007585">Jews</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D012016">Reference Values</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D014687">Venezuela</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
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<Month>11</Month>
<Day>2</Day>
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<tree><noCountry><name sortKey="De Lucca, Marisel" sort="De Lucca, Marisel" uniqKey="De Lucca M" first="Marisel" last="De Lucca">Marisel De Lucca</name>
<name sortKey="Eblan, Michael J" sort="Eblan, Michael J" uniqKey="Eblan M" first="Michael J" last="Eblan">Michael J. Eblan</name>
<name sortKey="Gallardo, Marisol" sort="Gallardo, Marisol" uniqKey="Gallardo M" first="Marisol" last="Gallardo">Marisol Gallardo</name>
<name sortKey="Hanson, Melissa" sort="Hanson, Melissa" uniqKey="Hanson M" first="Melissa" last="Hanson">Melissa Hanson</name>
<name sortKey="Lwin, Alicia" sort="Lwin, Alicia" uniqKey="Lwin A" first="Alicia" last="Lwin">Alicia Lwin</name>
<name sortKey="Nguyen, Joann" sort="Nguyen, Joann" uniqKey="Nguyen J" first="Joann" last="Nguyen">Joann Nguyen</name>
<name sortKey="Sidransky, Ellen" sort="Sidransky, Ellen" uniqKey="Sidransky E" first="Ellen" last="Sidransky">Ellen Sidransky</name>
<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<name sortKey="Weiser, Roberto" sort="Weiser, Roberto" uniqKey="Weiser R" first="Roberto" last="Weiser">Roberto Weiser</name>
<name sortKey="Ziegler, Shira G" sort="Ziegler, Shira G" uniqKey="Ziegler S" first="Shira G" last="Ziegler">Shira G. Ziegler</name>
</noCountry>
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</record>

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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Source :

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki