MovDisordV3, Main, Merge, bibRecord, 006797

Familial essential tremor is not associated with SCA-12 mutation in Southern Italy

Identifieur interne : 006797 ( Main/Merge ); précédent : 006796; suivant : 006798

Familial essential tremor is not associated with SCA-12 mutation in Southern Italy

Auteurs : Giuseppe Nicoletti [Italie] ; Grazia Annesi [Italie] ; Sara Carrideo [Italie] ; Carmine Tomaino [Italie] ; Alfonso Di Costanzo [Italie] ; Mario Zappia [Italie] ; Aldo Quattrone [Italie]

Source :

Movement disorders [ 0885-3185 ] ; 2002.

RBID : Pascal:02-0456886

Descripteurs français

Pascal (Inist)
- Tremblement, Essentiel, Mutation, Allèle, Italie, Ataxie spinocérébelleuse, Déterminisme génétique, Homme, Gène SCA-12.
Wicri :
- geographic : Italie.
- topic : Homme.

English descriptors

KwdEn :
- Allele, Essential, Genetic determinism, Human, Italy, Mutation, Spinocerebellar ataxia, Tremor.

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.

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

to stream PascalFrancis, to step Corpus: 002671
to stream PascalFrancis, to step Curation: 000650
to stream PascalFrancis, to step Checkpoint: 002758

Links to Exploration step

Pascal:02-0456886

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, 2nd University of Naples</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Neurology, University Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Neurology, University Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">02-0456886</idno>
<date when="2002">2002</date>
<idno type="stanalyst">PASCAL 02-0456886 INIST</idno>
<idno type="RBID">Pascal:02-0456886</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002671</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000650</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002758</idno>
<idno type="wicri:doubleKey">0885-3185:2002:Nicoletti G:familial:essential:tremor</idno>
<idno type="wicri:Area/Main/Merge">006797</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<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>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, 2nd University of Naples</s1>
<s2>Naples</s2>
<s3>ITA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Naples</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Neurology, University Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone</s1>
<s2>Cosenza</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Cosenza</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Institute of Neurology, University Magna Graecia</s1>
<s2>Catanzaro</s2>
<s3>ITA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Catanzaro</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term>
<term>Essential</term>
<term>Genetic determinism</term>
<term>Human</term>
<term>Italy</term>
<term>Mutation</term>
<term>Spinocerebellar ataxia</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term>
<term>Essentiel</term>
<term>Mutation</term>
<term>Allèle</term>
<term>Italie</term>
<term>Ataxie spinocérébelleuse</term>
<term>Déterminisme génétique</term>
<term>Homme</term>
<term>Gène SCA-12</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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>
<affiliations><list><country><li>Italie</li>
</country>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
</noRegion>
<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="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>
<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006797 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 006797 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:02-0456886
   |texte=   Familial essential tremor is not associated with SCA-12 mutation in Southern Italy
}}

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)

Familial essential tremor is not associated with SCA-12 mutation in Southern Italy

Familial essential tremor is not associated with SCA-12 mutation in Southern Italy

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