New mutation in the non-gigantic exon of SACS in Japanese siblings.
Identifieur interne : 002833 ( PubMed/Corpus ); précédent : 002832; suivant : 002834New mutation in the non-gigantic exon of SACS in Japanese siblings.
Auteurs : Yuhei Takado ; Kenju Hara ; Takayoshi Shimohata ; Susumu Tokiguchi ; Osamu Onodera ; Masatoyo NishizawaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution (genetics), Atrophy, Cerebellum (pathology), Chromosome Aberrations, Consanguinity, Exons (genetics), Female, Gait Ataxia (diagnosis), Gait Ataxia (genetics), Genes, Recessive, Heat-Shock Proteins (genetics), Homozygote, Humans, Leucine (genetics), Male, Middle Aged, Mutation (genetics), Phenylalanine (genetics), Sequence Analysis, DNA, Siblings.
- MESH :
- chemical , genetics : Heat-Shock Proteins, Leucine, Phenylalanine.
- diagnosis : Gait Ataxia.
- genetics : Amino Acid Substitution, Exons, Gait Ataxia, Mutation.
- pathology : Cerebellum.
- Adult, Atrophy, Chromosome Aberrations, Consanguinity, Female, Genes, Recessive, Homozygote, Humans, Male, Middle Aged, Sequence Analysis, DNA, Siblings.
DOI: 10.1002/mds.21365
PubMed: 17290461
Links to Exploration step
pubmed:17290461Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">New mutation in the non-gigantic exon of SACS in Japanese siblings.</title>
<author><name sortKey="Takado, Yuhei" sort="Takado, Yuhei" uniqKey="Takado Y" first="Yuhei" last="Takado">Yuhei Takado</name>
</author>
<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
</author>
<author><name sortKey="Shimohata, Takayoshi" sort="Shimohata, Takayoshi" uniqKey="Shimohata T" first="Takayoshi" last="Shimohata">Takayoshi Shimohata</name>
</author>
<author><name sortKey="Tokiguchi, Susumu" sort="Tokiguchi, Susumu" uniqKey="Tokiguchi S" first="Susumu" last="Tokiguchi">Susumu Tokiguchi</name>
</author>
<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="doi">10.1002/mds.21365</idno>
<idno type="RBID">pubmed:17290461</idno>
<idno type="pmid">17290461</idno>
<idno type="wicri:Area/PubMed/Corpus">002833</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">New mutation in the non-gigantic exon of SACS in Japanese siblings.</title>
<author><name sortKey="Takado, Yuhei" sort="Takado, Yuhei" uniqKey="Takado Y" first="Yuhei" last="Takado">Yuhei Takado</name>
</author>
<author><name sortKey="Hara, Kenju" sort="Hara, Kenju" uniqKey="Hara K" first="Kenju" last="Hara">Kenju Hara</name>
</author>
<author><name sortKey="Shimohata, Takayoshi" sort="Shimohata, Takayoshi" uniqKey="Shimohata T" first="Takayoshi" last="Shimohata">Takayoshi Shimohata</name>
</author>
<author><name sortKey="Tokiguchi, Susumu" sort="Tokiguchi, Susumu" uniqKey="Tokiguchi S" first="Susumu" last="Tokiguchi">Susumu Tokiguchi</name>
</author>
<author><name sortKey="Onodera, Osamu" sort="Onodera, Osamu" uniqKey="Onodera O" first="Osamu" last="Onodera">Osamu Onodera</name>
</author>
<author><name sortKey="Nishizawa, Masatoyo" sort="Nishizawa, Masatoyo" uniqKey="Nishizawa M" first="Masatoyo" last="Nishizawa">Masatoyo Nishizawa</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="2007" type="published">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Amino Acid Substitution (genetics)</term>
<term>Atrophy</term>
<term>Cerebellum (pathology)</term>
<term>Chromosome Aberrations</term>
<term>Consanguinity</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gait Ataxia (diagnosis)</term>
<term>Gait Ataxia (genetics)</term>
<term>Genes, Recessive</term>
<term>Heat-Shock Proteins (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Leucine (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Phenylalanine (genetics)</term>
<term>Sequence Analysis, DNA</term>
<term>Siblings</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Heat-Shock Proteins</term>
<term>Leucine</term>
<term>Phenylalanine</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gait Ataxia</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term>
<term>Exons</term>
<term>Gait Ataxia</term>
<term>Mutation</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cerebellum</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Atrophy</term>
<term>Chromosome Aberrations</term>
<term>Consanguinity</term>
<term>Female</term>
<term>Genes, Recessive</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Sequence Analysis, DNA</term>
<term>Siblings</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17290461</PMID>
<DateCreated><Year>2007</Year>
<Month>05</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2007</Year>
<Month>07</Month>
<Day>23</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>5</Issue>
<PubDate><Year>2007</Year>
<Month>Apr</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>New mutation in the non-gigantic exon of SACS in Japanese siblings.</ArticleTitle>
<Pagination><MedlinePgn>748-9</MedlinePgn>
</Pagination>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Takado</LastName>
<ForeName>Yuhei</ForeName>
<Initials>Y</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hara</LastName>
<ForeName>Kenju</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>Shimohata</LastName>
<ForeName>Takayoshi</ForeName>
<Initials>T</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tokiguchi</LastName>
<ForeName>Susumu</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Onodera</LastName>
<ForeName>Osamu</ForeName>
<Initials>O</Initials>
</Author>
<Author ValidYN="Y"><LastName>Nishizawa</LastName>
<ForeName>Masatoyo</ForeName>
<Initials>M</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</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="D006360">Heat-Shock Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C404403">SACS protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>47E5O17Y3R</RegistryNumber>
<NameOfSubstance UI="D010649">Phenylalanine</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>GMW67QNF9C</RegistryNumber>
<NameOfSubstance UI="D007930">Leucine</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D019943">Amino Acid Substitution</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002869">Chromosome Aberrations</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D003241">Consanguinity</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020234">Gait Ataxia</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005808">Genes, Recessive</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006360">Heat-Shock Proteins</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006720">Homozygote</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D007930">Leucine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010649">Phenylalanine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D035781">Siblings</DescriptorName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>2</Month>
<Day>10</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2007</Year>
<Month>7</Month>
<Day>24</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2007</Year>
<Month>2</Month>
<Day>10</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="doi">10.1002/mds.21365</ArticleId>
<ArticleId IdType="pubmed">17290461</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002833 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 002833 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Corpus |type= RBID |clé= pubmed:17290461 |texte= New mutation in the non-gigantic exon of SACS in Japanese siblings. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:17290461" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |