Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
Identifieur interne : 002864 ( PubMed/Corpus ); précédent : 002863; suivant : 002865Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
Auteurs : Jim Grigsby ; Angela G. Brega ; Maureen A. Leehey ; Glenn K. Goodrich ; Sébastien Jacquemont ; Danuta Z. Loesch ; Jennifer B. Cogswell ; Jennifer Epstein ; Rebecca Wilson ; Tristan Jardini ; Emma Gould ; Rachael E. Bennett ; David Hessl ; Susannah Cohen ; Kylee Cook ; Flora Tassone ; Paul J. Hagerman ; Randi J. HagermanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Aged, Cognition Disorders (diagnosis), Cognition Disorders (genetics), Cognition Disorders (psychology), DNA Mutational Analysis, Diagnosis, Differential, Fragile X Mental Retardation Protein (genetics), Fragile X Syndrome (diagnosis), Fragile X Syndrome (genetics), Fragile X Syndrome (psychology), Humans, Intelligence (genetics), Male, Middle Aged, Neuropsychological Tests, Problem Solving, Promoter Regions, Genetic, Spinocerebellar Degenerations (diagnosis), Spinocerebellar Degenerations (genetics), Spinocerebellar Degenerations (psychology), Tremor (diagnosis), Tremor (genetics), Tremor (psychology), Trinucleotide Repeats.
- MESH :
- chemical , genetics : Fragile X Mental Retardation Protein.
- diagnosis : Cognition Disorders, Fragile X Syndrome, Spinocerebellar Degenerations, Tremor.
- genetics : Cognition Disorders, Fragile X Syndrome, Intelligence, Spinocerebellar Degenerations, Tremor.
- psychology : Cognition Disorders, Fragile X Syndrome, Spinocerebellar Degenerations, Tremor.
- Adult, Aged, DNA Mutational Analysis, Diagnosis, Differential, Humans, Male, Middle Aged, Neuropsychological Tests, Problem Solving, Promoter Regions, Genetic, Trinucleotide Repeats.
Abstract
The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [nonverbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.
DOI: 10.1002/mds.21359
PubMed: 17266074
Links to Exploration step
pubmed:17266074Le document en format XML
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Goodrich</name></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name></author><author><name sortKey="Loesch, Danuta Z" sort="Loesch, Danuta Z" uniqKey="Loesch D" first="Danuta Z" last="Loesch">Danuta Z. Loesch</name></author><author><name sortKey="Cogswell, Jennifer B" sort="Cogswell, Jennifer B" uniqKey="Cogswell J" first="Jennifer B" last="Cogswell">Jennifer B. Cogswell</name></author><author><name sortKey="Epstein, Jennifer" sort="Epstein, Jennifer" uniqKey="Epstein J" first="Jennifer" last="Epstein">Jennifer Epstein</name></author><author><name sortKey="Wilson, Rebecca" sort="Wilson, Rebecca" uniqKey="Wilson R" first="Rebecca" last="Wilson">Rebecca Wilson</name></author><author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name></author><author><name sortKey="Gould, Emma" sort="Gould, Emma" uniqKey="Gould E" first="Emma" last="Gould">Emma Gould</name></author><author><name sortKey="Bennett, Rachael E" sort="Bennett, Rachael E" uniqKey="Bennett R" first="Rachael E" last="Bennett">Rachael E. 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Hagerman</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21359</idno><idno type="RBID">pubmed:17266074</idno><idno type="pmid">17266074</idno><idno type="wicri:Area/PubMed/Corpus">002864</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.</title><author><name sortKey="Grigsby, Jim" sort="Grigsby, Jim" uniqKey="Grigsby J" first="Jim" last="Grigsby">Jim Grigsby</name><affiliation><nlm:affiliation>Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, Co 80045-5701, USA. jim.grigsby@uchsc.edu</nlm:affiliation></affiliation></author><author><name sortKey="Brega, Angela G" sort="Brega, Angela G" uniqKey="Brega A" first="Angela G" last="Brega">Angela G. Brega</name></author><author><name sortKey="Leehey, Maureen A" sort="Leehey, Maureen A" uniqKey="Leehey M" first="Maureen A" last="Leehey">Maureen A. Leehey</name></author><author><name sortKey="Goodrich, Glenn K" sort="Goodrich, Glenn K" uniqKey="Goodrich G" first="Glenn K" last="Goodrich">Glenn K. Goodrich</name></author><author><name sortKey="Jacquemont, Sebastien" sort="Jacquemont, Sebastien" uniqKey="Jacquemont S" first="Sébastien" last="Jacquemont">Sébastien Jacquemont</name></author><author><name sortKey="Loesch, Danuta Z" sort="Loesch, Danuta Z" uniqKey="Loesch D" first="Danuta Z" last="Loesch">Danuta Z. Loesch</name></author><author><name sortKey="Cogswell, Jennifer B" sort="Cogswell, Jennifer B" uniqKey="Cogswell J" first="Jennifer B" last="Cogswell">Jennifer B. Cogswell</name></author><author><name sortKey="Epstein, Jennifer" sort="Epstein, Jennifer" uniqKey="Epstein J" first="Jennifer" last="Epstein">Jennifer Epstein</name></author><author><name sortKey="Wilson, Rebecca" sort="Wilson, Rebecca" uniqKey="Wilson R" first="Rebecca" last="Wilson">Rebecca Wilson</name></author><author><name sortKey="Jardini, Tristan" sort="Jardini, Tristan" uniqKey="Jardini T" first="Tristan" last="Jardini">Tristan Jardini</name></author><author><name sortKey="Gould, Emma" sort="Gould, Emma" uniqKey="Gould E" first="Emma" last="Gould">Emma Gould</name></author><author><name sortKey="Bennett, Rachael E" sort="Bennett, Rachael E" uniqKey="Bennett R" first="Rachael E" last="Bennett">Rachael E. Bennett</name></author><author><name sortKey="Hessl, David" sort="Hessl, David" uniqKey="Hessl D" first="David" last="Hessl">David Hessl</name></author><author><name sortKey="Cohen, Susannah" sort="Cohen, Susannah" uniqKey="Cohen S" first="Susannah" last="Cohen">Susannah Cohen</name></author><author><name sortKey="Cook, Kylee" sort="Cook, Kylee" uniqKey="Cook K" first="Kylee" last="Cook">Kylee Cook</name></author><author><name sortKey="Tassone, Flora" sort="Tassone, Flora" uniqKey="Tassone F" first="Flora" last="Tassone">Flora Tassone</name></author><author><name sortKey="Hagerman, Paul J" sort="Hagerman, Paul J" uniqKey="Hagerman P" first="Paul J" last="Hagerman">Paul J. Hagerman</name></author><author><name sortKey="Hagerman, Randi J" sort="Hagerman, Randi J" uniqKey="Hagerman R" first="Randi J" last="Hagerman">Randi J. Hagerman</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Cognition Disorders (diagnosis)</term><term>Cognition Disorders (genetics)</term><term>Cognition Disorders (psychology)</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Fragile X Mental Retardation Protein (genetics)</term><term>Fragile X Syndrome (diagnosis)</term><term>Fragile X Syndrome (genetics)</term><term>Fragile X Syndrome (psychology)</term><term>Humans</term><term>Intelligence (genetics)</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Problem Solving</term><term>Promoter Regions, Genetic</term><term>Spinocerebellar Degenerations (diagnosis)</term><term>Spinocerebellar Degenerations (genetics)</term><term>Spinocerebellar Degenerations (psychology)</term><term>Tremor (diagnosis)</term><term>Tremor (genetics)</term><term>Tremor (psychology)</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cognition Disorders</term><term>Fragile X Syndrome</term><term>Spinocerebellar Degenerations</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Fragile X Syndrome</term><term>Intelligence</term><term>Spinocerebellar Degenerations</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="psychology" xml:lang="en"><term>Cognition Disorders</term><term>Fragile X Syndrome</term><term>Spinocerebellar Degenerations</term><term>Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neuropsychological Tests</term><term>Problem Solving</term><term>Promoter Regions, Genetic</term><term>Trinucleotide Repeats</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [nonverbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17266074</PMID><DateCreated><Year>2007</Year><Month>05</Month><Day>01</Day></DateCreated><DateCompleted><Year>2007</Year><Month>07</Month><Day>23</Day></DateCompleted><DateRevised><Year>2015</Year><Month>05</Month><Day>26</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>5</Issue><PubDate><Year>2007</Year><Month>Apr</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.</ArticleTitle><Pagination><MedlinePgn>645-50</MedlinePgn></Pagination><Abstract><AbstractText>The fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified phenotype associated with trinucleotide repeat expansions in the premutation range of the fragile X mental retardation 1 (FMR1) gene. In addition to progressive gait ataxia, action tremor, peripheral neuropathy, and parkinsonism, FXTAS involves impaired cognition. Our preliminary research suggests that executive cognitive functioning (ECF) is especially affected. In this study, a brief neuropsychological exam was administered to 33 men with FXTAS and 27 healthy controls. Compared with controls, individuals with FXTAS showed statistically significant impairments on measures from the Wechsler Adult Intelligence Scale, third edition (WAIS-III; verbal IQ, performance [nonverbal] IQ, verbal comprehension, perceptual organization, and processing speed). FXTAS subjects scored significantly lower on three of four measures of ECF and on two tests of information processing speed. The results provide evidence that FXTAS involves impairment of general intellectual functioning, with marked impairment of executive cognitive abilities. The pattern of cognitive performance is somewhat similar to that observed in the frontal variant of frontotemporal dementia and several of the spinocerebellar ataxias, but differs from the deficits observed in dementia of the Alzheimer type.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Grigsby</LastName><ForeName>Jim</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, Co 80045-5701, USA. jim.grigsby@uchsc.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brega</LastName><ForeName>Angela G</ForeName><Initials>AG</Initials></Author><Author ValidYN="Y"><LastName>Leehey</LastName><ForeName>Maureen A</ForeName><Initials>MA</Initials></Author><Author ValidYN="Y"><LastName>Goodrich</LastName><ForeName>Glenn K</ForeName><Initials>GK</Initials></Author><Author ValidYN="Y"><LastName>Jacquemont</LastName><ForeName>Sébastien</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Loesch</LastName><ForeName>Danuta Z</ForeName><Initials>DZ</Initials></Author><Author ValidYN="Y"><LastName>Cogswell</LastName><ForeName>Jennifer B</ForeName><Initials>JB</Initials></Author><Author ValidYN="Y"><LastName>Epstein</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Wilson</LastName><ForeName>Rebecca</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Jardini</LastName><ForeName>Tristan</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Gould</LastName><ForeName>Emma</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Bennett</LastName><ForeName>Rachael E</ForeName><Initials>RE</Initials></Author><Author ValidYN="Y"><LastName>Hessl</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Cohen</LastName><ForeName>Susannah</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Cook</LastName><ForeName>Kylee</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Tassone</LastName><ForeName>Flora</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Hagerman</LastName><ForeName>Paul J</ForeName><Initials>PJ</Initials></Author><Author ValidYN="Y"><LastName>Hagerman</LastName><ForeName>Randi J</ForeName><Initials>RJ</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>5 M01 RR00069</GrantID><Acronym>RR</Acronym><Agency>NCRR NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HC02274</GrantID><Acronym>HC</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>HD36071</GrantID><Acronym>HD</Acronym><Agency>NICHD NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS044299</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NS43532</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 NS044299</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497683">FMR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>139135-51-6</RegistryNumber><NameOfSubstance UI="D051860">Fragile X Mental Retardation Protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003072">Cognition Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051860">Fragile X Mental Retardation Protein</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005600">Fragile X Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007360">Intelligence</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D011340">Problem Solving</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011401">Promoter Regions, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013132">Spinocerebellar Degenerations</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014202">Tremor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000523">psychology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>7</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>2</Month><Day>3</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21359</ArticleId><ArticleId IdType="pubmed">17266074</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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