MovDisordV3, Main, Exploration, bibRecord, 004B12

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Identifieur interne : 004B12 ( Main/Exploration ); précédent : 004B11; suivant : 004B13

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Auteurs : Maria Teresa Dotti [Italie] ; Antonio Federico [Italie] ; Rita Garuti [Italie] ; Sebastiano Calandra [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2000-09.

RBID : ISTEX:C3038057C8EB910D4B45BCB4BEDB97F127F871A0

Descripteurs français

Pascal (Inist)
- Adulte, Diagnostic, Déterminisme génétique, Encéphale, Enzymopathie, Etude cas, Gène CYP27, Mutation faux sens, Mâle, Parkinsonisme, Phénotype, Tendon, Xanthomatose.
Wicri :
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Blotting, Southern, Brain (vertebrata), Case study, Cholestanetriol 26-Monooxygenase, Cytochrome P-450 Enzyme System (genetics), Diagnosis, Enzymopathy, Genetic determinism, Homozygote, Humans, Lipid Metabolism, Inborn Errors (genetics), Male, Middle Aged, Missense mutation, Mutation, Missense, Parkinsonian Disorders (enzymology), Parkinsonian Disorders (genetics), Parkinsonism, Phenotype, Polymorphism, Single-Stranded Conformational, Steroid Hydroxylases (genetics), Tendon, Xanthomatosis, Xanthomatosis, Cerebrotendinous (complications), Xanthomatosis, Cerebrotendinous (enzymology), Xanthomatosis, Cerebrotendinous (genetics).
MESH :
- chemical , genetics : Cytochrome P-450 Enzyme System, Steroid Hydroxylases.
- chemical : Cholestanetriol 26-Monooxygenase.
- complications : Xanthomatosis, Cerebrotendinous.
- enzymology : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- genetics : Lipid Metabolism, Inborn Errors, Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- Blotting, Southern, Homozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single-Stranded Conformational.

Url:

https://api.istex.fr/document/C3038057C8EB910D4B45BCB4BEDB97F127F871A0/fulltext/pdf

DOI: 10.1002/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F

Affiliations:

Italie

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity</title>
<author><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name>
</author>
<author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name>
</author>
<author><name sortKey="Garuti, Rita" sort="Garuti, Rita" uniqKey="Garuti R" first="Rita" last="Garuti">Rita Garuti</name>
</author>
<author><name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:C3038057C8EB910D4B45BCB4BEDB97F127F871A0</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F</idno>
<idno type="url">https://api.istex.fr/document/C3038057C8EB910D4B45BCB4BEDB97F127F871A0/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002261</idno>
<idno type="wicri:Area/Istex/Curation">002261</idno>
<idno type="wicri:Area/Istex/Checkpoint">003313</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Dotti M:cerebrotendinous:xanthomatosis:with</idno>
<idno type="wicri:Area/Main/Merge">007410</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:00-0480443</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002B45</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000176</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002C40</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Dotti M:cerebrotendinous:xanthomatosis:with</idno>
<idno type="wicri:Area/Main/Merge">007632</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:11009219</idno>
<idno type="wicri:Area/PubMed/Corpus">003E86</idno>
<idno type="wicri:Area/PubMed/Curation">003E86</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004021</idno>
<idno type="wicri:Area/Ncbi/Merge">000365</idno>
<idno type="wicri:Area/Ncbi/Curation">000365</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000365</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Dotti M:cerebrotendinous:xanthomatosis:with</idno>
<idno type="wicri:Area/Main/Merge">007164</idno>
<idno type="wicri:Area/Main/Curation">004B12</idno>
<idno type="wicri:Area/Main/Exploration">004B12</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity</title>
<author><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Siena</wicri:regionArea>
<wicri:noRegion>Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Siena</wicri:regionArea>
<wicri:noRegion>Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garuti, Rita" sort="Garuti, Rita" uniqKey="Garuti R" first="Rita" last="Garuti">Rita Garuti</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical, Sciences, Unit of General Pathology, University of Modena, Modena</wicri:regionArea>
<wicri:noRegion>Modena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name>
<affiliation wicri:level="1"><country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical, Sciences, Unit of General Pathology, University of Modena, Modena</wicri:regionArea>
<wicri:noRegion>Modena</wicri:noRegion>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-09">2000-09</date>
<biblScope unit="vol">15</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="1017">1017</biblScope>
<biblScope unit="page" to="1019">1019</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">C3038057C8EB910D4B45BCB4BEDB97F127F871A0</idno>
<idno type="DOI">10.1002/1531-8257(200009)15:5<1017::AID-MDS1043>3.0.CO;2-F</idno>
<idno type="ArticleID">MDS1043</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Blotting, Southern</term>
<term>Brain (vertebrata)</term>
<term>Case study</term>
<term>Cholestanetriol 26-Monooxygenase</term>
<term>Cytochrome P-450 Enzyme System (genetics)</term>
<term>Diagnosis</term>
<term>Enzymopathy</term>
<term>Genetic determinism</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Lipid Metabolism, Inborn Errors (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Missense mutation</term>
<term>Mutation, Missense</term>
<term>Parkinsonian Disorders (enzymology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
<term>Polymorphism, Single-Stranded Conformational</term>
<term>Steroid Hydroxylases (genetics)</term>
<term>Tendon</term>
<term>Xanthomatosis</term>
<term>Xanthomatosis, Cerebrotendinous (complications)</term>
<term>Xanthomatosis, Cerebrotendinous (enzymology)</term>
<term>Xanthomatosis, Cerebrotendinous (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 Enzyme System</term>
<term>Steroid Hydroxylases</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Cholestanetriol 26-Monooxygenase</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lipid Metabolism, Inborn Errors</term>
<term>Parkinsonian Disorders</term>
<term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Blotting, Southern</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Polymorphism, Single-Stranded Conformational</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Diagnostic</term>
<term>Déterminisme génétique</term>
<term>Encéphale</term>
<term>Enzymopathie</term>
<term>Etude cas</term>
<term>Gène CYP27</term>
<term>Mutation faux sens</term>
<term>Mâle</term>
<term>Parkinsonisme</term>
<term>Phénotype</term>
<term>Tendon</term>
<term>Xanthomatose</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
</TEI>
<affiliations><list><country><li>Italie</li>
</country>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Dotti, Maria Teresa" sort="Dotti, Maria Teresa" uniqKey="Dotti M" first="Maria Teresa" last="Dotti">Maria Teresa Dotti</name>
</noRegion>
<name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name>
<name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name>
<name sortKey="Garuti, Rita" sort="Garuti, Rita" uniqKey="Garuti R" first="Rita" last="Garuti">Rita Garuti</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

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

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004B12 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 004B12 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     ISTEX:C3038057C8EB910D4B45BCB4BEDB97F127F871A0
   |texte=   Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity
}}

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)

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: Further confirmation of the clinical heterogeneity

Source :

Descripteurs français

English descriptors

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	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.