Autopsy-proven Huntington's disease with 29 trinucleotide repeats.
Identifieur interne : 001957 ( Ncbi/Curation ); précédent : 001956; suivant : 001958Autopsy-proven Huntington's disease with 29 trinucleotide repeats.
Auteurs : Christopher Kenney [États-Unis] ; Suzanne Powell ; Joseph Jankovic [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins.
- genetics : Huntington Disease, Trinucleotide Repeat Expansion.
- methods : Autopsy.
- pathology : Huntington Disease.
- Humans, Male, Middle Aged.
Abstract
Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats.
DOI: 10.1002/mds.21195
PubMed: 17115386
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002982
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002982
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002955
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001957
Links to Exploration step
pubmed:17115386Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autopsy-proven Huntington's disease with 29 trinucleotide repeats.</title><author><name sortKey="Kenney, Christopher" sort="Kenney, Christopher" uniqKey="Kenney C" first="Christopher" last="Kenney">Christopher Kenney</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA. kenney@bcm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</wicri:regionArea><wicri:noRegion>Texas 77030</wicri:noRegion></affiliation></author><author><name sortKey="Powell, Suzanne" sort="Powell, Suzanne" uniqKey="Powell S" first="Suzanne" last="Powell">Suzanne Powell</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21195</idno><idno type="RBID">pubmed:17115386</idno><idno type="pmid">17115386</idno><idno type="wicri:Area/PubMed/Corpus">002982</idno><idno type="wicri:Area/PubMed/Curation">002982</idno><idno type="wicri:Area/PubMed/Checkpoint">002955</idno><idno type="wicri:Area/Ncbi/Merge">001957</idno><idno type="wicri:Area/Ncbi/Curation">001957</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Autopsy-proven Huntington's disease with 29 trinucleotide repeats.</title><author><name sortKey="Kenney, Christopher" sort="Kenney, Christopher" uniqKey="Kenney C" first="Christopher" last="Kenney">Christopher Kenney</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA. kenney@bcm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030</wicri:regionArea><wicri:noRegion>Texas 77030</wicri:noRegion></affiliation></author><author><name sortKey="Powell, Suzanne" sort="Powell, Suzanne" uniqKey="Powell S" first="Suzanne" last="Powell">Suzanne Powell</name></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation><country>États-Unis</country><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></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>Autopsy (methods)</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Huntington Disease (pathology)</term><term>Male</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Trinucleotide Repeat Expansion (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term><term>Trinucleotide Repeat Expansion</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Autopsy</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Huntington Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. A minimum of 36 CAG repeats is usually reported in patients with clinical features of HD; 30 to 35 repeats represent an intermediate range. Here we report a 65-year-old male with autopsy-proven HD and 29 CAG repeats.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001957 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001957 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:17115386
|texte= Autopsy-proven Huntington's disease with 29 trinucleotide repeats.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:17115386" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |