MovDisordV3, Ncbi, Merge, bibRecord, 000855

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

Identifieur interne : 000855 ( Ncbi/Merge ); précédent : 000854; suivant : 000856

Familial 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 Quattrone

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.

RBID : pubmed:12210890

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

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

to stream PubMed, to step Corpus: 003996
to stream PubMed, to step Curation: 003996
to stream PubMed, to step Checkpoint: 003A89

Links to Exploration step

pubmed:12210890

Le document en format XML

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<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>
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<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>
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<author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name>
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<author><name sortKey="Tomaino, Carmine" sort="Tomaino, Carmine" uniqKey="Tomaino C" first="Carmine" last="Tomaino">Carmine Tomaino</name>
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<author><name sortKey="Di Costanzo, Alfonso" sort="Di Costanzo, Alfonso" uniqKey="Di Costanzo A" first="Alfonso" last="Di Costanzo">Alfonso Di Costanzo</name>
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<author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
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<author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name>
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<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>
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<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>
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<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>
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<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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<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>
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<Author ValidYN="Y"><LastName>Carrideo</LastName>
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<Author ValidYN="Y"><LastName>Tomaino</LastName>
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<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>
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<country name="Italie"><noRegion><name sortKey="Nicoletti, Giuseppe" sort="Nicoletti, Giuseppe" uniqKey="Nicoletti G" first="Giuseppe" last="Nicoletti">Giuseppe Nicoletti</name>
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	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

Pour générer des pages wiki