Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome : Further confirmation of the clinical heterogeneity
Identifieur interne :
000176 ( PascalFrancis/Curation );
précédent :
000175;
suivant :
000177
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.
RBID : Pascal:00-0480443
Descripteurs français
- Pascal (Inist)
- Xanthomatose,
Encéphale,
Tendon,
Parkinsonisme,
Mutation faux sens,
Phénotype,
Etude cas,
Diagnostic,
Déterminisme génétique,
Adulte,
Mâle,
Enzymopathie,
Gène CYP27.
- Wicri :
English descriptors
- KwdEn :
- Adult,
Brain (vertebrata),
Case study,
Diagnosis,
Enzymopathy,
Genetic determinism,
Male,
Missense mutation,
Parkinsonism,
Phenotype,
Tendon,
Xanthomatosis.
| pA |
| A01 | 01 | 1 | | @0 0885-3185 |
|---|
| A03 | | 1 | | @0 Mov. disord. |
|---|
| A05 | | | | @2 15 |
|---|
| A06 | | | | @2 5 |
|---|
| A08 | 01 | 1 | ENG | @1 Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome : Further confirmation of the clinical heterogeneity |
|---|
| A11 | 01 | 1 | | @1 DOTTI (Maria Teresa) |
|---|
| A11 | 02 | 1 | | @1 FEDERICO (Antonio) |
|---|
| A11 | 03 | 1 | | @1 GARUTI (Rita) |
|---|
| A11 | 04 | 1 | | @1 CALANDRA (Sebastiano) |
|---|
| A14 | 01 | | | @1 Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena @2 Siena @3 ITA @Z 1 aut. @Z 2 aut. |
|---|
| A14 | 02 | | | @1 Department of Biomedical Sciences, Unit of General Pathology, University of Modena @2 Modena @3 ITA @Z 3 aut. @Z 4 aut. |
|---|
| A20 | | | | @1 1017-1019 |
|---|
| A21 | | | | @1 2000 |
|---|
| A23 | 01 | | | @0 ENG |
|---|
| A43 | 01 | | | @1 INIST @2 20953 @5 354000091356830420 |
|---|
| A44 | | | | @0 0000 @1 © 2000 INIST-CNRS. All rights reserved. |
|---|
| A45 | | | | @0 22 ref. |
|---|
| A47 | 01 | 1 | | @0 00-0480443 |
|---|
| A60 | | | | @1 P |
|---|
| A61 | | | | @0 A |
|---|
| A64 | 01 | 1 | | @0 Movement disorders |
|---|
| A66 | 01 | | | @0 USA |
|---|
| C02 | 01 | X | | @0 002B22D02 |
|---|
| C03 | 01 | X | FRE | @0 Xanthomatose @5 01 |
|---|
| C03 | 01 | X | ENG | @0 Xanthomatosis @5 01 |
|---|
| C03 | 01 | X | SPA | @0 Xantomatosis @5 01 |
|---|
| C03 | 02 | X | FRE | @0 Encéphale @5 02 |
|---|
| C03 | 02 | X | ENG | @0 Brain (vertebrata) @5 02 |
|---|
| C03 | 02 | X | SPA | @0 Encéfalo @5 02 |
|---|
| C03 | 03 | X | FRE | @0 Tendon @5 03 |
|---|
| C03 | 03 | X | ENG | @0 Tendon @5 03 |
|---|
| C03 | 03 | X | SPA | @0 Tendón @5 03 |
|---|
| C03 | 04 | X | FRE | @0 Parkinsonisme @2 NM @5 04 |
|---|
| C03 | 04 | X | ENG | @0 Parkinsonism @2 NM @5 04 |
|---|
| C03 | 04 | X | SPA | @0 Parkinson síndrome @2 NM @5 04 |
|---|
| C03 | 05 | X | FRE | @0 Mutation faux sens @5 07 |
|---|
| C03 | 05 | X | ENG | @0 Missense mutation @5 07 |
|---|
| C03 | 05 | X | SPA | @0 Mutación falso sentido @5 07 |
|---|
| C03 | 06 | X | FRE | @0 Phénotype @5 10 |
|---|
| C03 | 06 | X | ENG | @0 Phenotype @5 10 |
|---|
| C03 | 06 | X | SPA | @0 Fenotipo @5 10 |
|---|
| C03 | 07 | X | FRE | @0 Etude cas @5 17 |
|---|
| C03 | 07 | X | ENG | @0 Case study @5 17 |
|---|
| C03 | 07 | X | SPA | @0 Estudio caso @5 17 |
|---|
| C03 | 08 | X | FRE | @0 Diagnostic @5 18 |
|---|
| C03 | 08 | X | ENG | @0 Diagnosis @5 18 |
|---|
| C03 | 08 | X | SPA | @0 Diagnóstico @5 18 |
|---|
| C03 | 09 | X | FRE | @0 Déterminisme génétique @5 19 |
|---|
| C03 | 09 | X | ENG | @0 Genetic determinism @5 19 |
|---|
| C03 | 09 | X | SPA | @0 Determinismo genético @5 19 |
|---|
| C03 | 10 | X | FRE | @0 Adulte @5 20 |
|---|
| C03 | 10 | X | ENG | @0 Adult @5 20 |
|---|
| C03 | 10 | X | SPA | @0 Adulto @5 20 |
|---|
| C03 | 11 | X | FRE | @0 Mâle @5 21 |
|---|
| C03 | 11 | X | ENG | @0 Male @5 21 |
|---|
| C03 | 11 | X | SPA | @0 Macho @5 21 |
|---|
| C03 | 12 | X | FRE | @0 Enzymopathie @5 25 |
|---|
| C03 | 12 | X | ENG | @0 Enzymopathy @5 25 |
|---|
| C03 | 12 | X | SPA | @0 Enzimopatía @5 25 |
|---|
| C03 | 13 | X | FRE | @0 Gène CYP27 @4 INC @5 86 |
|---|
| C07 | 01 | X | FRE | @0 Homme |
|---|
| C07 | 01 | X | ENG | @0 Human |
|---|
| C07 | 01 | X | SPA | @0 Hombre |
|---|
| C07 | 02 | X | FRE | @0 Métabolisme pathologie @5 37 |
|---|
| C07 | 02 | X | ENG | @0 Metabolic diseases @5 37 |
|---|
| C07 | 02 | X | SPA | @0 Metabolismo patología @5 37 |
|---|
| C07 | 03 | X | FRE | @0 Système nerveux pathologie @5 38 |
|---|
| C07 | 03 | X | ENG | @0 Nervous system diseases @5 38 |
|---|
| C07 | 03 | X | SPA | @0 Sistema nervioso patología @5 38 |
|---|
| C07 | 04 | X | FRE | @0 Système ostéoarticulaire pathologie @5 39 |
|---|
| C07 | 04 | X | ENG | @0 Diseases of the osteoarticular system @5 39 |
|---|
| C07 | 04 | X | SPA | @0 Sistema osteoarticular patología @5 39 |
|---|
| C07 | 05 | X | FRE | @0 Maladie héréditaire @5 40 |
|---|
| C07 | 05 | X | ENG | @0 Genetic disease @5 40 |
|---|
| C07 | 05 | X | SPA | @0 Enfermedad hereditaria @5 40 |
|---|
| C07 | 06 | X | FRE | @0 Trouble neurologique @5 45 |
|---|
| C07 | 06 | X | ENG | @0 Neurological disorder @5 45 |
|---|
| C07 | 06 | X | SPA | @0 Trastorno neurológico @5 45 |
|---|
| N21 | | | | @1 318 |
|---|
|
|---|
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002B45
Links to Exploration step
Pascal:00-0480443
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Garuti, Rita" sort="Garuti, Rita" uniqKey="Garuti R" first="Rita" last="Garuti">Rita Garuti</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, Unit of General Pathology, University of Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, Unit of General Pathology, University of Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">00-0480443</idno>
<date when="2000">2000</date>
<idno type="stanalyst">PASCAL 00-0480443 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>
</publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Federico, Antonio" sort="Federico, Antonio" uniqKey="Federico A" first="Antonio" last="Federico">Antonio Federico</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Garuti, Rita" sort="Garuti, Rita" uniqKey="Garuti R" first="Rita" last="Garuti">Rita Garuti</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, Unit of General Pathology, University of Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><author><name sortKey="Calandra, Sebastiano" sort="Calandra, Sebastiano" uniqKey="Calandra S" first="Sebastiano" last="Calandra">Sebastiano Calandra</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Sciences, Unit of General Pathology, University of Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</inist:fA14><country>Italie</country>
</affiliation><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="2000">2000</date>
</imprint><seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Brain (vertebrata)</term>
<term>Case study</term>
<term>Diagnosis</term>
<term>Enzymopathy</term>
<term>Genetic determinism</term>
<term>Male</term>
<term>Missense mutation</term>
<term>Parkinsonism</term>
<term>Phenotype</term>
<term>Tendon</term>
<term>Xanthomatosis</term>
</keywords><keywords scheme="Pascal" xml:lang="fr"><term>Xanthomatose</term>
<term>Encéphale</term>
<term>Tendon</term>
<term>Parkinsonisme</term>
<term>Mutation faux sens</term>
<term>Phénotype</term>
<term>Etude cas</term>
<term>Diagnostic</term>
<term>Déterminisme génétique</term>
<term>Adulte</term>
<term>Mâle</term>
<term>Enzymopathie</term>
<term>Gène CYP27</term>
</keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01><fA03 i2="1"><s0>Mov. disord.</s0>
</fA03><fA08 i1="01" i2="1" l="ENG"><s1>Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome : Further confirmation of the clinical heterogeneity</s1>
</fA08><fA11 i1="01" i2="1"><s1>DOTTI (Maria Teresa)</s1>
</fA11><fA11 i1="02" i2="1"><s1>FEDERICO (Antonio)</s1>
</fA11><fA11 i1="03" i2="1"><s1>GARUTI (Rita)</s1>
</fA11><fA11 i1="04" i2="1"><s1>CALANDRA (Sebastiano)</s1>
</fA11><fA14 i1="01"><s1>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</s1>
<s2>Siena</s2>
<s3>ITA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</fA14><fA14 i1="02"><s1>Department of Biomedical Sciences, Unit of General Pathology, University of Modena</s1>
<s2>Modena</s2>
<s3>ITA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
</fA14><fA20><s1>1017-1019</s1>
</fA20><fA21><s1>2000</s1>
</fA21><fA23 i1="01"><s0>ENG</s0>
</fA23><fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000091356830420</s5>
</fA43><fA44><s0>0000</s0>
<s1>© 2000 INIST-CNRS. All rights reserved.</s1>
</fA44><fA45><s0>22 ref.</s0>
</fA45><fA47 i1="01" i2="1"><s0>00-0480443</s0>
</fA47><fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64><fA66 i1="01"><s0>USA</s0>
</fA66><fC02 i1="01" i2="X"><s0>002B22D02</s0>
</fC02><fC03 i1="01" i2="X" l="FRE"><s0>Xanthomatose</s0>
<s5>01</s5>
</fC03><fC03 i1="01" i2="X" l="ENG"><s0>Xanthomatosis</s0>
<s5>01</s5>
</fC03><fC03 i1="01" i2="X" l="SPA"><s0>Xantomatosis</s0>
<s5>01</s5>
</fC03><fC03 i1="02" i2="X" l="FRE"><s0>Encéphale</s0>
<s5>02</s5>
</fC03><fC03 i1="02" i2="X" l="ENG"><s0>Brain (vertebrata)</s0>
<s5>02</s5>
</fC03><fC03 i1="02" i2="X" l="SPA"><s0>Encéfalo</s0>
<s5>02</s5>
</fC03><fC03 i1="03" i2="X" l="FRE"><s0>Tendon</s0>
<s5>03</s5>
</fC03><fC03 i1="03" i2="X" l="ENG"><s0>Tendon</s0>
<s5>03</s5>
</fC03><fC03 i1="03" i2="X" l="SPA"><s0>Tendón</s0>
<s5>03</s5>
</fC03><fC03 i1="04" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03><fC03 i1="04" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03><fC03 i1="04" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>04</s5>
</fC03><fC03 i1="05" i2="X" l="FRE"><s0>Mutation faux sens</s0>
<s5>07</s5>
</fC03><fC03 i1="05" i2="X" l="ENG"><s0>Missense mutation</s0>
<s5>07</s5>
</fC03><fC03 i1="05" i2="X" l="SPA"><s0>Mutación falso sentido</s0>
<s5>07</s5>
</fC03><fC03 i1="06" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>10</s5>
</fC03><fC03 i1="06" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>10</s5>
</fC03><fC03 i1="06" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>10</s5>
</fC03><fC03 i1="07" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>17</s5>
</fC03><fC03 i1="07" i2="X" l="ENG"><s0>Case study</s0>
<s5>17</s5>
</fC03><fC03 i1="07" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>17</s5>
</fC03><fC03 i1="08" i2="X" l="FRE"><s0>Diagnostic</s0>
<s5>18</s5>
</fC03><fC03 i1="08" i2="X" l="ENG"><s0>Diagnosis</s0>
<s5>18</s5>
</fC03><fC03 i1="08" i2="X" l="SPA"><s0>Diagnóstico</s0>
<s5>18</s5>
</fC03><fC03 i1="09" i2="X" l="FRE"><s0>Déterminisme génétique</s0>
<s5>19</s5>
</fC03><fC03 i1="09" i2="X" l="ENG"><s0>Genetic determinism</s0>
<s5>19</s5>
</fC03><fC03 i1="09" i2="X" l="SPA"><s0>Determinismo genético</s0>
<s5>19</s5>
</fC03><fC03 i1="10" i2="X" l="FRE"><s0>Adulte</s0>
<s5>20</s5>
</fC03><fC03 i1="10" i2="X" l="ENG"><s0>Adult</s0>
<s5>20</s5>
</fC03><fC03 i1="10" i2="X" l="SPA"><s0>Adulto</s0>
<s5>20</s5>
</fC03><fC03 i1="11" i2="X" l="FRE"><s0>Mâle</s0>
<s5>21</s5>
</fC03><fC03 i1="11" i2="X" l="ENG"><s0>Male</s0>
<s5>21</s5>
</fC03><fC03 i1="11" i2="X" l="SPA"><s0>Macho</s0>
<s5>21</s5>
</fC03><fC03 i1="12" i2="X" l="FRE"><s0>Enzymopathie</s0>
<s5>25</s5>
</fC03><fC03 i1="12" i2="X" l="ENG"><s0>Enzymopathy</s0>
<s5>25</s5>
</fC03><fC03 i1="12" i2="X" l="SPA"><s0>Enzimopatía</s0>
<s5>25</s5>
</fC03><fC03 i1="13" i2="X" l="FRE"><s0>Gène CYP27</s0>
<s4>INC</s4>
<s5>86</s5>
</fC03><fC07 i1="01" i2="X" l="FRE"><s0>Homme</s0>
</fC07><fC07 i1="01" i2="X" l="ENG"><s0>Human</s0>
</fC07><fC07 i1="01" i2="X" l="SPA"><s0>Hombre</s0>
</fC07><fC07 i1="02" i2="X" l="FRE"><s0>Métabolisme pathologie</s0>
<s5>37</s5>
</fC07><fC07 i1="02" i2="X" l="ENG"><s0>Metabolic diseases</s0>
<s5>37</s5>
</fC07><fC07 i1="02" i2="X" l="SPA"><s0>Metabolismo patología</s0>
<s5>37</s5>
</fC07><fC07 i1="03" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>38</s5>
</fC07><fC07 i1="03" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>38</s5>
</fC07><fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>38</s5>
</fC07><fC07 i1="04" i2="X" l="FRE"><s0>Système ostéoarticulaire pathologie</s0>
<s5>39</s5>
</fC07><fC07 i1="04" i2="X" l="ENG"><s0>Diseases of the osteoarticular system</s0>
<s5>39</s5>
</fC07><fC07 i1="04" i2="X" l="SPA"><s0>Sistema osteoarticular patología</s0>
<s5>39</s5>
</fC07><fC07 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>40</s5>
</fC07><fC07 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>40</s5>
</fC07><fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>40</s5>
</fC07><fC07 i1="06" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>45</s5>
</fC07><fC07 i1="06" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>45</s5>
</fC07><fC07 i1="06" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>45</s5>
</fC07><fN21><s1>318</s1>
</fN21>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000176 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 000176 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PascalFrancis
|étape= Curation
|type= RBID
|clé= Pascal:00-0480443
|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 |  |
