Investigation of C9orf72 repeat expansions in Parkinson's disease.
Identifieur interne : 000D51 ( Main/Exploration ); précédent : 000D50; suivant : 000D52Investigation of C9orf72 repeat expansions in Parkinson's disease.
Auteurs : Hussein Daoud [Canada] ; Anne Noreau ; Daniel Rochefort ; Gabriel Paquin-Lanthier ; Maude Turcotte Gauthier ; Pierre Provencher ; Emmanuelle Pourcher ; Nicolas Dupré ; Sylvain Chouinard ; Nicolas Jodoin ; Valérie Soland ; Edward A. Fon ; Patrick A. Dion ; Guy A. RouleauSource :
- Neurobiology of aging [ 1558-1497 ] ; 2013.
Descripteurs français
- Wicri :
- geographic : Canada.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proteins.
- geographic , epidemiology : Canada.
- diagnosis : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : DNA Repeat Expansion, Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Cohort Studies, Female, Humans, Male, Middle Aged, Young Adult.
Abstract
Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.
DOI: 10.1016/j.neurobiolaging.2012.11.025
PubMed: 23273600
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000914
- to stream PubMed, to step Curation: 000914
- to stream PubMed, to step Checkpoint: 000914
- to stream Ncbi, to step Merge: 001342
- to stream Ncbi, to step Curation: 001342
- to stream Ncbi, to step Checkpoint: 001342
- to stream Main, to step Merge: 000D62
- to stream Main, to step Curation: 000D51
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Investigation of C9orf72 repeat expansions in Parkinson's disease.</title><author><name sortKey="Daoud, Hussein" sort="Daoud, Hussein" uniqKey="Daoud H" first="Hussein" last="Daoud">Hussein Daoud</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name></author><author><name sortKey="Paquin Lanthier, Gabriel" sort="Paquin Lanthier, Gabriel" uniqKey="Paquin Lanthier G" first="Gabriel" last="Paquin-Lanthier">Gabriel Paquin-Lanthier</name></author><author><name sortKey="Gauthier, Maude Turcotte" sort="Gauthier, Maude Turcotte" uniqKey="Gauthier M" first="Maude Turcotte" last="Gauthier">Maude Turcotte Gauthier</name></author><author><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name></author><author><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name></author><author><name sortKey="Jodoin, Nicolas" sort="Jodoin, Nicolas" uniqKey="Jodoin N" first="Nicolas" last="Jodoin">Nicolas Jodoin</name></author><author><name sortKey="Soland, Valerie" sort="Soland, Valerie" uniqKey="Soland V" first="Valérie" last="Soland">Valérie Soland</name></author><author><name sortKey="Fon, Edward A" sort="Fon, Edward A" uniqKey="Fon E" first="Edward A" last="Fon">Edward A. Fon</name></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23273600</idno><idno type="pmid">23273600</idno><idno type="doi">10.1016/j.neurobiolaging.2012.11.025</idno><idno type="wicri:Area/PubMed/Corpus">000914</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000914</idno><idno type="wicri:Area/PubMed/Curation">000914</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000914</idno><idno type="wicri:Area/PubMed/Checkpoint">000914</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000914</idno><idno type="wicri:Area/Ncbi/Merge">001342</idno><idno type="wicri:Area/Ncbi/Curation">001342</idno><idno type="wicri:Area/Ncbi/Checkpoint">001342</idno><idno type="wicri:Area/Main/Merge">000D62</idno><idno type="wicri:Area/Main/Curation">000D51</idno><idno type="wicri:Area/Main/Exploration">000D51</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Investigation of C9orf72 repeat expansions in Parkinson's disease.</title><author><name sortKey="Daoud, Hussein" sort="Daoud, Hussein" uniqKey="Daoud H" first="Hussein" last="Daoud">Hussein Daoud</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Centre of Excellence in Neuroscience of Université de Montréal (CENUM), CHUM Research Center and the Department of Medicine, Montreal, Quebec</wicri:regionArea><wicri:noRegion>Quebec</wicri:noRegion></affiliation></author><author><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name></author><author><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name></author><author><name sortKey="Paquin Lanthier, Gabriel" sort="Paquin Lanthier, Gabriel" uniqKey="Paquin Lanthier G" first="Gabriel" last="Paquin-Lanthier">Gabriel Paquin-Lanthier</name></author><author><name sortKey="Gauthier, Maude Turcotte" sort="Gauthier, Maude Turcotte" uniqKey="Gauthier M" first="Maude Turcotte" last="Gauthier">Maude Turcotte Gauthier</name></author><author><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name></author><author><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name></author><author><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name></author><author><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name></author><author><name sortKey="Jodoin, Nicolas" sort="Jodoin, Nicolas" uniqKey="Jodoin N" first="Nicolas" last="Jodoin">Nicolas Jodoin</name></author><author><name sortKey="Soland, Valerie" sort="Soland, Valerie" uniqKey="Soland V" first="Valérie" last="Soland">Valérie Soland</name></author><author><name sortKey="Fon, Edward A" sort="Fon, Edward A" uniqKey="Fon E" first="Edward A" last="Fon">Edward A. Fon</name></author><author><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></author></analytic><series><title level="j">Neurobiology of aging</title><idno type="eISSN">1558-1497</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Canada (epidemiology)</term><term>Cohort Studies</term><term>DNA Repeat Expansion (genetics)</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (epidemiology)</term><term>Parkinson Disease (genetics)</term><term>Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Canada</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>DNA Repeat Expansion</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Canada</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Large repeat expansions in the C9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Given some of the clinical and pathologic overlap between these 2 diseases and Parkinson's disease, we sought to evaluate the presence of these expansions in a cohort of French-Canadian patients with Parkinson's disease. No pathologic expansion was found in our cohort of patients suggesting that C9orf72 repeat expansions do not play a major role in the pathogenesis of Parkinson's disease.</div></front></TEI><affiliations><list><country><li>Canada</li></country></list><tree><noCountry><name sortKey="Chouinard, Sylvain" sort="Chouinard, Sylvain" uniqKey="Chouinard S" first="Sylvain" last="Chouinard">Sylvain Chouinard</name><name sortKey="Dion, Patrick A" sort="Dion, Patrick A" uniqKey="Dion P" first="Patrick A" last="Dion">Patrick A. Dion</name><name sortKey="Dupre, Nicolas" sort="Dupre, Nicolas" uniqKey="Dupre N" first="Nicolas" last="Dupré">Nicolas Dupré</name><name sortKey="Fon, Edward A" sort="Fon, Edward A" uniqKey="Fon E" first="Edward A" last="Fon">Edward A. Fon</name><name sortKey="Gauthier, Maude Turcotte" sort="Gauthier, Maude Turcotte" uniqKey="Gauthier M" first="Maude Turcotte" last="Gauthier">Maude Turcotte Gauthier</name><name sortKey="Jodoin, Nicolas" sort="Jodoin, Nicolas" uniqKey="Jodoin N" first="Nicolas" last="Jodoin">Nicolas Jodoin</name><name sortKey="Noreau, Anne" sort="Noreau, Anne" uniqKey="Noreau A" first="Anne" last="Noreau">Anne Noreau</name><name sortKey="Paquin Lanthier, Gabriel" sort="Paquin Lanthier, Gabriel" uniqKey="Paquin Lanthier G" first="Gabriel" last="Paquin-Lanthier">Gabriel Paquin-Lanthier</name><name sortKey="Pourcher, Emmanuelle" sort="Pourcher, Emmanuelle" uniqKey="Pourcher E" first="Emmanuelle" last="Pourcher">Emmanuelle Pourcher</name><name sortKey="Provencher, Pierre" sort="Provencher, Pierre" uniqKey="Provencher P" first="Pierre" last="Provencher">Pierre Provencher</name><name sortKey="Rochefort, Daniel" sort="Rochefort, Daniel" uniqKey="Rochefort D" first="Daniel" last="Rochefort">Daniel Rochefort</name><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><name sortKey="Soland, Valerie" sort="Soland, Valerie" uniqKey="Soland V" first="Valérie" last="Soland">Valérie Soland</name></noCountry><country name="Canada"><noRegion><name sortKey="Daoud, Hussein" sort="Daoud, Hussein" uniqKey="Daoud H" first="Hussein" last="Daoud">Hussein Daoud</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000D51 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000D51 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= pubmed:23273600
|texte= Investigation of C9orf72 repeat expansions in Parkinson's disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23273600" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |