Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
Identifieur interne : 003A89 ( PubMed/Checkpoint ); précédent : 003A88; suivant : 003A90Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
Auteurs : Giuseppe Nicoletti [Italie] ; Grazia Annesi ; Sara Carrideo ; Carmine Tomaino ; Alfonso Di Costanzo ; Mario Zappia ; Aldo QuattroneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- Alleles, Chromosomes, Human, Pair 5, DNA Mutational Analysis, Essential Tremor (diagnosis), Essential Tremor (genetics), Female, Genetics, Population, Humans, Italy, Male, Phosphoprotein Phosphatases (genetics), Point Mutation (genetics), Protein Phosphatase 2, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Phosphoprotein Phosphatases.
- geographic : Italy, Protein Phosphatase 2.
- diagnosis : Essential Tremor, Spinocerebellar Ataxias.
- genetics : Essential Tremor, Point Mutation, Spinocerebellar Ataxias, Trinucleotide Repeats.
- Alleles, Chromosomes, Human, Pair 5, DNA Mutational Analysis, Female, Genetics, Population, Humans, Male.
Abstract
We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases.
DOI: 10.1002/mds.10191
PubMed: 12210890
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:12210890Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial essential tremor is not associated with SCA-12 mutation in southern Italy.</title>
<author><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza</wicri:regionArea>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
</author>
<author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
</author>
<author><name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
</author>
<author><name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
</author>
<author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2002">2002</date>
<idno type="RBID">pubmed:12210890</idno>
<idno type="pmid">12210890</idno>
<idno type="doi">10.1002/mds.10191</idno>
<idno type="wicri:Area/PubMed/Corpus">003996</idno>
<idno type="wicri:Area/PubMed/Curation">003996</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003A89</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Familial essential tremor is not associated with SCA-12 mutation in southern Italy.</title>
<author><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza</wicri:regionArea>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
</author>
<author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
</author>
<author><name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
</author>
<author><name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
</author>
<author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</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="2002" type="published">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Chromosomes, Human, Pair 5</term>
<term>DNA Mutational Analysis</term>
<term>Essential Tremor (diagnosis)</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Genetics, Population</term>
<term>Humans</term>
<term>Italy</term>
<term>Male</term>
<term>Phosphoprotein Phosphatases (genetics)</term>
<term>Point Mutation (genetics)</term>
<term>Protein Phosphatase 2</term>
<term>Spinocerebellar Ataxias (diagnosis)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Trinucleotide Repeats (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphoprotein Phosphatases</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term>
<term>Protein Phosphatase 2</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Essential Tremor</term>
<term>Spinocerebellar Ataxias</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term>
<term>Point Mutation</term>
<term>Spinocerebellar Ataxias</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Chromosomes, Human, Pair 5</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetics, Population</term>
<term>Humans</term>
<term>Male</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases.</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12210890</PMID>
<DateCreated><Year>2002</Year>
<Month>09</Month>
<Day>04</Day>
</DateCreated>
<DateCompleted><Year>2002</Year>
<Month>11</Month>
<Day>20</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>11</Month>
<Day>15</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>17</Volume>
<Issue>4</Issue>
<PubDate><Year>2002</Year>
<Month>Jul</Month>
</PubDate>
</JournalIssue>
<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
</Journal>
<ArticleTitle>Familial essential tremor is not associated with SCA-12 mutation in southern Italy.</ArticleTitle>
<Pagination><MedlinePgn>837-8</MedlinePgn>
</Pagination>
<Abstract><AbstractText>We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases.</AbstractText>
<CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nicoletti</LastName>
<ForeName>Giuseppe</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Annesi</LastName>
<ForeName>Grazia</ForeName>
<Initials>G</Initials>
</Author>
<Author ValidYN="Y"><LastName>Carrideo</LastName>
<ForeName>Sara</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Tomaino</LastName>
<ForeName>Carmine</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y"><LastName>Di Costanzo</LastName>
<ForeName>Alfonso</ForeName>
<Initials>A</Initials>
</Author>
<Author ValidYN="Y"><LastName>Zappia</LastName>
<ForeName>Mario</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Quattrone</LastName>
<ForeName>Aldo</ForeName>
<Initials>A</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</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="C432785">PPP2R1B protein, human</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="C086766">Ppp2r1b protein, mouse</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.1.3.16</RegistryNumber>
<NameOfSubstance UI="D010749">Phosphoprotein Phosphatases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.1.3.16</RegistryNumber>
<NameOfSubstance UI="D054648">Protein Phosphatase 2</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D002895">Chromosomes, Human, Pair 5</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005828">Genetics, Population</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010749">Phosphoprotein Phosphatases</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D054648">Protein Phosphatase 2</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year>
<Month>9</Month>
<Day>5</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2002</Year>
<Month>11</Month>
<Day>26</Day>
<Hour>4</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2002</Year>
<Month>9</Month>
<Day>5</Day>
<Hour>10</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">12210890</ArticleId>
<ArticleId IdType="doi">10.1002/mds.10191</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Italie</li>
</country>
</list>
<tree><noCountry><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name>
<name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
<name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
<name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
</noCountry>
<country name="Italie"><noRegion><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003A89 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 003A89 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= PubMed |étape= Checkpoint |type= RBID |clé= pubmed:12210890 |texte= Familial essential tremor is not associated with SCA-12 mutation in southern Italy. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:12210890" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |