MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000B42

Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia

Identifieur interne : 000B42 ( PascalFrancis/Checkpoint ); précédent : 000B41; suivant : 000B43

Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia

Auteurs : David Bradley [Irlande (pays)] ; Robert Whelan [Irlande (pays)] ; Richard Walsh [Irlande (pays)] ; John O'Dwyer [Irlande (pays)] ; Richard Reilly [Irlande (pays)] ; Siobhan Hutchinson [Irlande (pays)] ; Fiona Molloy [Irlande (pays)] ; Michael Hutchinson [Irlande (pays)]

Source :

Movement disorders [ 0885-3185 ] ; 2010.

RBID : Pascal:10-0096513

Descripteurs français

Pascal (Inist)
- Dystonie, Pathologie du système nerveux, Torsion, Noyau gris central, Discrimination.

English descriptors

KwdEn :
- Basal ganglion, Discrimination, Dystonia, Nervous system diseases, Torsion.

Abstract

Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21 %) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41 %) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype ; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.

Affiliations:

Irlande (pays)

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

to stream PascalFrancis, to step Corpus: 000C48
to stream PascalFrancis, to step Curation: 002071

Links to Exploration step

Pascal:10-0096513

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia</title>
<author><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Trinity Centre for BioEngineering, Trinity College</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="O Dwyer, John" sort="O Dwyer, John" uniqKey="O Dwyer J" first="John" last="O'Dwyer">John O'Dwyer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reilly, Richard" sort="Reilly, Richard" uniqKey="Reilly R" first="Richard" last="Reilly">Richard Reilly</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Trinity Centre for BioEngineering, Trinity College</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Neurophysiology, Beaumont Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">10-0096513</idno>
<date when="2010">2010</date>
<idno type="stanalyst">PASCAL 10-0096513 INIST</idno>
<idno type="RBID">Pascal:10-0096513</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000C48</idno>
<idno type="wicri:Area/PascalFrancis/Curation">002071</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">000B42</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia</title>
<author><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Trinity Centre for BioEngineering, Trinity College</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="O Dwyer, John" sort="O Dwyer, John" uniqKey="O Dwyer J" first="John" last="O'Dwyer">John O'Dwyer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reilly, Richard" sort="Reilly, Richard" uniqKey="Reilly R" first="Richard" last="Reilly">Richard Reilly</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Trinity Centre for BioEngineering, Trinity College</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Clinical Neurophysiology, Beaumont Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
<wicri:noRegion>Dublin</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="2010">2010</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>Basal ganglion</term>
<term>Discrimination</term>
<term>Dystonia</term>
<term>Nervous system diseases</term>
<term>Torsion</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Pathologie du   système nerveux</term>
<term>Torsion</term>
<term>Noyau gris central</term>
<term>Discrimination</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21 %) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41 %) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype ; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>25</s2>
</fA05>
<fA06><s2>1</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BRADLEY (David)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WHELAN (Robert)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>WALSH (Richard)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>O'DWYER (John)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>REILLY (Richard)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>HUTCHINSON (Siobhan)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>MOLLOY (Fiona)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>HUTCHINSON (Michael)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, St. Vincent's University Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Trinity Centre for BioEngineering, Trinity College</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>1 aut.</sZ>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Department of Clinical Neurophysiology, Beaumont Hospital</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>7 aut.</sZ>
</fA14>
<fA20><s1>84-90</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000180873130110</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>45 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0096513</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21 %) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41 %) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype ; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17H</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Torsion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Torsion</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Torsión</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Noyau gris central</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Basal ganglion</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Núcleo basal</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Discrimination</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Discrimination</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Discriminación</s0>
<s5>11</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0>
<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Encéphale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Encephalon</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo</s0>
<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervioso central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="07" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>44</s5>
</fC07>
<fC07 i1="07" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>44</s5>
</fC07>
<fC07 i1="08" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>45</s5>
</fC07>
<fC07 i1="08" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>45</s5>
</fC07>
<fN21><s1>060</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Irlande (pays)</li>
</country>
</list>
<tree><country name="Irlande (pays)"><noRegion><name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name>
</noRegion>
<name sortKey="Bradley, David" sort="Bradley, David" uniqKey="Bradley D" first="David" last="Bradley">David Bradley</name>
<name sortKey="Hutchinson, Michael" sort="Hutchinson, Michael" uniqKey="Hutchinson M" first="Michael" last="Hutchinson">Michael Hutchinson</name>
<name sortKey="Hutchinson, Siobhan" sort="Hutchinson, Siobhan" uniqKey="Hutchinson S" first="Siobhan" last="Hutchinson">Siobhan Hutchinson</name>
<name sortKey="Molloy, Fiona" sort="Molloy, Fiona" uniqKey="Molloy F" first="Fiona" last="Molloy">Fiona Molloy</name>
<name sortKey="O Dwyer, John" sort="O Dwyer, John" uniqKey="O Dwyer J" first="John" last="O'Dwyer">John O'Dwyer</name>
<name sortKey="Reilly, Richard" sort="Reilly, Richard" uniqKey="Reilly R" first="Richard" last="Reilly">Richard Reilly</name>
<name sortKey="Walsh, Richard" sort="Walsh, Richard" uniqKey="Walsh R" first="Richard" last="Walsh">Richard Walsh</name>
<name sortKey="Whelan, Robert" sort="Whelan, Robert" uniqKey="Whelan R" first="Robert" last="Whelan">Robert Whelan</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Checkpoint

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000B42 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Checkpoint/biblio.hfd -nk 000B42 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Checkpoint
   |type=    RBID
   |clé=     Pascal:10-0096513
   |texte=   Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia
}}

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)

Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia

Comparing Endophenotypes in Adult-Onset Primary Torsion Dystonia

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