MovDisordV3, PubMed, Curation, bibRecord, 003E27

Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.

Identifieur interne : 003E27 ( PubMed/Curation ); précédent : 003E26; suivant : 003E28

Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.

Auteurs : H. Ujike [Japon] ; M. Yamamoto ; A. Kanzaki ; K. Okumura ; M. Takaki ; S. Kuroda

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2001.

RBID : pubmed:11215568

Descripteurs français

Wicri :
- geographic : Japon.

English descriptors

KwdEn :
- Age of Onset, Aged, Catchment Area (Health), Cohort Studies, Exons, Female, Gene Deletion, Homozygote, Humans, Japan (epidemiology), Ligases, Male, Parkinsonian Disorders (epidemiology), Parkinsonian Disorders (genetics), Prevalence, Proteins (genetics), Ubiquitin-Protein Ligases.
MESH :
- chemical , genetics : Proteins.
- chemical : Ligases, Ubiquitin-Protein Ligases.
- geographic , epidemiology : Japan.
- epidemiology : Parkinsonian Disorders.
- genetics : Parkinsonian Disorders.
- Age of Onset, Aged, Catchment Area (Health), Cohort Studies, Exons, Female, Gene Deletion, Homozygote, Humans, Male, Prevalence.

Abstract

Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.

PubMed: 11215568

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

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003E27

Links to Exploration step

pubmed:11215568

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.</title>
<author><name sortKey="Ujike, H" sort="Ujike, H" uniqKey="Ujike H" first="H" last="Ujike">H. Ujike</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neuropsychiatry, Okayama University Medical School, Japan. hujike@cc.okayama-u.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuropsychiatry, Okayama University Medical School</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yamamoto, M" sort="Yamamoto, M" uniqKey="Yamamoto M" first="M" last="Yamamoto">M. Yamamoto</name>
</author>
<author><name sortKey="Kanzaki, A" sort="Kanzaki, A" uniqKey="Kanzaki A" first="A" last="Kanzaki">A. Kanzaki</name>
</author>
<author><name sortKey="Okumura, K" sort="Okumura, K" uniqKey="Okumura K" first="K" last="Okumura">K. Okumura</name>
</author>
<author><name sortKey="Takaki, M" sort="Takaki, M" uniqKey="Takaki M" first="M" last="Takaki">M. Takaki</name>
</author>
<author><name sortKey="Kuroda, S" sort="Kuroda, S" uniqKey="Kuroda S" first="S" last="Kuroda">S. Kuroda</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2001">2001</date>
<idno type="RBID">pubmed:11215568</idno>
<idno type="pmid">11215568</idno>
<idno type="wicri:Area/PubMed/Corpus">003E27</idno>
<idno type="wicri:Area/PubMed/Curation">003E27</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.</title>
<author><name sortKey="Ujike, H" sort="Ujike, H" uniqKey="Ujike H" first="H" last="Ujike">H. Ujike</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neuropsychiatry, Okayama University Medical School, Japan. hujike@cc.okayama-u.ac.jp</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neuropsychiatry, Okayama University Medical School</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yamamoto, M" sort="Yamamoto, M" uniqKey="Yamamoto M" first="M" last="Yamamoto">M. Yamamoto</name>
</author>
<author><name sortKey="Kanzaki, A" sort="Kanzaki, A" uniqKey="Kanzaki A" first="A" last="Kanzaki">A. Kanzaki</name>
</author>
<author><name sortKey="Okumura, K" sort="Okumura, K" uniqKey="Okumura K" first="K" last="Okumura">K. Okumura</name>
</author>
<author><name sortKey="Takaki, M" sort="Takaki, M" uniqKey="Takaki M" first="M" last="Takaki">M. Takaki</name>
</author>
<author><name sortKey="Kuroda, S" sort="Kuroda, S" uniqKey="Kuroda S" first="S" last="Kuroda">S. Kuroda</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="2001" type="published">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<term>Catchment Area (Health)</term>
<term>Cohort Studies</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Japan (epidemiology)</term>
<term>Ligases</term>
<term>Male</term>
<term>Parkinsonian Disorders (epidemiology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Prevalence</term>
<term>Proteins (genetics)</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Ligases</term>
<term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Japan</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term>
<term>Aged</term>
<term>Catchment Area (Health)</term>
<term>Cohort Studies</term>
<term>Exons</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Prevalence</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">11215568</PMID>
<DateCreated><Year>2001</Year>
<Month>02</Month>
<Day>15</Day>
</DateCreated>
<DateCompleted><Year>2001</Year>
<Month>06</Month>
<Day>14</Day>
</DateCompleted>
<DateRevised><Year>2006</Year>
<Month>11</Month>
<Day>15</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>16</Volume>
<Issue>1</Issue>
<PubDate><Year>2001</Year>
<Month>Jan</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.</ArticleTitle>
<Pagination><MedlinePgn>111-3</MedlinePgn>
</Pagination>
<Abstract><AbstractText>Mutation of the parkin gene is a cause of familial Parkinson's disease of the autosomal recessive form; however, its significance in all Parkinson's disease cases is unclear. Deletions in the parkin gene were found in only 2.2% of 184 Japanese patients with Parkinson's disease. However, deletions were present in 25.0% and 40.0% of the patients with juvenile-onset (< 40 y) and with familiality, respectively. On the other hand, deletions were not found in any adult-onset cases (> 40 y). Half of the patients with parkin gene-related Parkinson's disease lacked both heredity and consanguinity.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ujike</LastName>
<ForeName>H</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Neuropsychiatry, Okayama University Medical School, Japan. hujike@cc.okayama-u.ac.jp</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yamamoto</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kanzaki</LastName>
<ForeName>A</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Okumura</LastName>
<ForeName>K</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Takaki</LastName>
<ForeName>M</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Kuroda</LastName>
<ForeName>S</ForeName>
<Initials>S</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Mov Disord</MedlineTA>
<NlmUniqueID>8610688</NlmUniqueID>
<ISSNLinking>0885-3185</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D011506">Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.-</RegistryNumber>
<NameOfSubstance UI="D008025">Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="C111567">parkin protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002391">Catchment Area (Health)</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017353">Gene Deletion</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D006720">Homozygote</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007564">Japan</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D008025">Ligases</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000453">epidemiology</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D015995">Prevalence</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D011506">Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year>
<Month>2</Month>
<Day>24</Day>
<Hour>12</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2001</Year>
<Month>6</Month>
<Day>23</Day>
<Hour>10</Hour>
<Minute>1</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2001</Year>
<Month>2</Month>
<Day>24</Day>
<Hour>12</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">11215568</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003E27 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd -nk 003E27 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PubMed
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:11215568
   |texte=   Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Curation/RBID.i   -Sk "pubmed:11215568" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	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)

Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.

Prevalence of homozygous deletions of the parkin gene in a cohort of patients with sporadic and familial Parkinson's disease.

Source :

Descripteurs français

English descriptors

Abstract

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