Genotype–phenotype correlation: Familial Parkinson disease
Identifieur interne : 001B43 ( Main/Corpus ); précédent : 001B42; suivant : 001B44Genotype–phenotype correlation: Familial Parkinson disease
Auteurs : Hideo Mori ; Nobutaka Hattori ; Yoshikuni MizunoSource :
- Neuropathology [ 0919-6544 ] ; 2003-03.
English descriptors
- KwdEn :
Abstract
Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.
Url:
DOI: 10.1046/j.1440-1789.2003.00476.x
Links to Exploration step
ISTEX:432A3FADF72A78BAB5663B4237FB6A5E4277C854Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genotype–phenotype correlation: Familial Parkinson disease</title><author><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:432A3FADF72A78BAB5663B4237FB6A5E4277C854</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1046/j.1440-1789.2003.00476.x</idno><idno type="url">https://api.istex.fr/document/432A3FADF72A78BAB5663B4237FB6A5E4277C854/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001B43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genotype–phenotype correlation: Familial Parkinson disease</title><author><name sortKey="Mori, Hideo" sort="Mori, Hideo" uniqKey="Mori H" first="Hideo" last="Mori">Hideo Mori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Neuropathology</title><idno type="ISSN">0919-6544</idno><idno type="eISSN">1440-1789</idno><imprint><publisher>Blackwell Science Pty</publisher><pubPlace>Melbourne, Australia</pubPlace><date type="published" when="2003-03">2003-03</date><biblScope unit="volume">23</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="90">90</biblScope><biblScope unit="page" to="94">94</biblScope></imprint><idno type="ISSN">0919-6544</idno></series><idno type="istex">432A3FADF72A78BAB5663B4237FB6A5E4277C854</idno><idno type="DOI">10.1046/j.1440-1789.2003.00476.x</idno><idno type="ArticleID">NEUP476</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0919-6544</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Park 1</term><term>Park 2</term><term>Parkin</term><term>familial Parkinson disease</term><term>α‐synuclein</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Hideo Mori</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Nobutaka Hattori</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Yoshikuni Mizuno</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>α‐synuclein</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>familial Parkinson disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Park 1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Park 2</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkin</value></json:item></subject><articleId><json:string>NEUP476</json:string></articleId><language><json:string>eng</json:string></language><abstract>Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.</abstract><qualityIndicators><score>3.93</score><pdfVersion>1.4</pdfVersion><pdfPageSize>595 x 779.638 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>573</abstractCharCount><pdfWordCount>2374</pdfWordCount><pdfCharCount>14909</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>88</abstractWordCount></qualityIndicators><title>Genotype–phenotype correlation: Familial Parkinson disease</title><genre><json:string>article</json:string></genre><host><volume>23</volume><publisherId><json:string>NEUP</json:string></publisherId><pages><total>5</total><last>94</last><first>90</first></pages><issn><json:string>0919-6544</json:string></issn><issue>1</issue><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1440-1789</json:string></eissn><title>Neuropathology</title><doi><json:string>10.1111/(ISSN)1440-1789</json:string></doi></host><publicationDate>2003</publicationDate><copyrightDate>2003</copyrightDate><doi><json:string>10.1046/j.1440-1789.2003.00476.x</json:string></doi><id>432A3FADF72A78BAB5663B4237FB6A5E4277C854</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/432A3FADF72A78BAB5663B4237FB6A5E4277C854/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/432A3FADF72A78BAB5663B4237FB6A5E4277C854/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/432A3FADF72A78BAB5663B4237FB6A5E4277C854/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Genotype–phenotype correlation: Familial Parkinson disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Science Pty</publisher><pubPlace>Melbourne, Australia</pubPlace><availability><p>WILEY</p></availability><date>2003</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Genotype–phenotype correlation: Familial Parkinson disease</title><author><persName><forename type="first">Hideo</forename><surname>Mori</surname></persName><note type="correspondence"><p>Correspondence: Hideo Mori, , Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐ku, Tokyo 113, Japan. Email:</p></note><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Nobutaka</forename><surname>Hattori</surname></persName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Yoshikuni</forename><surname>Mizuno</surname></persName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation></author></analytic><monogr><title level="j">Neuropathology</title><idno type="pISSN">0919-6544</idno><idno type="eISSN">1440-1789</idno><idno type="DOI">10.1111/(ISSN)1440-1789</idno><imprint><publisher>Blackwell Science Pty</publisher><pubPlace>Melbourne, Australia</pubPlace><date type="published" when="2003-03"></date><biblScope unit="volume">23</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="90">90</biblScope><biblScope unit="page" to="94">94</biblScope></imprint></monogr><idno type="istex">432A3FADF72A78BAB5663B4237FB6A5E4277C854</idno><idno type="DOI">10.1046/j.1440-1789.2003.00476.x</idno><idno type="ArticleID">NEUP476</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2003</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>α‐synuclein</term></item><item><term>familial Parkinson disease</term></item><item><term>Park 1</term></item><item><term>Park 2</term></item><item><term>Parkin</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2003-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/432A3FADF72A78BAB5663B4237FB6A5E4277C854/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Science Pty</publisherName><publisherLoc>Melbourne, Australia</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1440-1789</doi><issn type="print">0919-6544</issn><issn type="electronic">1440-1789</issn><idGroup><id type="product" value="NEUP"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="NEUROPATHOLOGY">Neuropathology</title></titleGroup></publicationMeta><publicationMeta level="part" position="03001"><doi origin="wiley">10.1111/neu.2003.23.issue-1</doi><numberingGroup><numbering type="journalVolume" number="23">23</numbering><numbering type="journalIssue" number="1">1</numbering></numberingGroup><coverDate startDate="2003-03">March 2003</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="0009000" status="forIssue"><doi origin="wiley">10.1046/j.1440-1789.2003.00476.x</doi><idGroup><id type="unit" value="NEUP476"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="tocHeading1">SYMPOSIUM: GAP BETWEEN GENOTYPE AND PHENOTYPE IN NEUROLOGICAL DISEASES</title></titleGroup><eventGroup><event type="firstOnline" date="2003-03-10"></event><event type="publishedOnlineFinalForm" date="2003-03-10"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-11"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-03"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="90">90</numbering><numbering type="pageLast" number="94">94</numbering></numberingGroup><correspondenceTo> Hideo Mori, <sc>md</sc>, Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐ku, Tokyo 113, Japan. Email:<email>h_mori@med.juntendo.ac.jp</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:NEUP.NEUP476.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received and accepted 21 October 2002.</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="35"></count><count type="wordTotal" number="113"></count><count type="linksPubMed" number="32"></count><count type="linksCrossRef" number="0"></count></countGroup><titleGroup><title type="main">Genotype–phenotype correlation: Familial Parkinson disease</title><title type="shortAuthors">H Mori et al.</title><title type="short">Familial PD</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" corresponding="yes"><personName><givenNames>Hideo</givenNames><familyName>Mori</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>Nobutaka</givenNames><familyName>Hattori</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>Yoshikuni</givenNames><familyName>Mizuno</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1" countryCode="JP"><unparsedAffiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1"><i>α</i><i>‐</i><i>synuclein</i></keyword><keyword xml:id="k2">familial Parkinson disease</keyword><keyword xml:id="k3">Park 1</keyword><keyword xml:id="k4">Park 2 </keyword><keyword xml:id="k5"><i>Parkin</i></keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p>Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Genotype–phenotype correlation: Familial Parkinson disease</title></titleInfo><titleInfo type="abbreviated"><title>Familial PD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genotype–phenotype correlation: Familial Parkinson disease</title></titleInfo><name type="personal"><namePart type="given">Hideo</namePart><namePart type="family">Mori</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><description>Correspondence: Hideo Mori, , Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo‐ku, Tokyo 113, Japan. Email:</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nobutaka</namePart><namePart type="family">Hattori</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoshikuni</namePart><namePart type="family">Mizuno</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Science Pty</publisher><place><placeTerm type="text">Melbourne, Australia</placeTerm></place><dateIssued encoding="w3cdtf">2003-03</dateIssued><edition>Received and accepted 21 October 2002.</edition><copyrightDate encoding="w3cdtf">2003</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">1</extent><extent unit="references">35</extent><extent unit="words">113</extent></physicalDescription><abstract lang="en">Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.</abstract><subject lang="en"><genre>Keywords</genre><topic>α‐synuclein</topic><topic>familial Parkinson disease</topic><topic>Park 1</topic><topic>Park 2</topic><topic>Parkin</topic></subject><relatedItem type="host"><titleInfo><title>Neuropathology</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">0919-6544</identifier><identifier type="eISSN">1440-1789</identifier><identifier type="DOI">10.1111/(ISSN)1440-1789</identifier><identifier type="PublisherID">NEUP</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>90</start><end>94</end><total>5</total></extent></part></relatedItem><identifier type="istex">432A3FADF72A78BAB5663B4237FB6A5E4277C854</identifier><identifier type="DOI">10.1046/j.1440-1789.2003.00476.x</identifier><identifier type="ArticleID">NEUP476</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Science Pty</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001B43 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Corpus/biblio.hfd -nk 001B43 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Corpus
|type= RBID
|clé= ISTEX:432A3FADF72A78BAB5663B4237FB6A5E4277C854
|texte= Genotype–phenotype correlation: Familial Parkinson disease
}}
| This area was generated with Dilib version V0.6.23. |  |