Familial Alzheimer's disease: Site of mutation influences clinical phenotype
Identifieur interne : 003504 ( Main/Exploration ); précédent : 003503; suivant : 003505Familial Alzheimer's disease: Site of mutation influences clinical phenotype
Auteurs : C. F. Lippa [États-Unis] ; J. M. Swearer [États-Unis] ; K. J. Kane [États-Unis] ; D. Nochlin [États-Unis] ; T. D. Bird [États-Unis] ; B. Ghetti [États-Unis] ; L. E. Nee [États-Unis] ; P. St. George-Hyslop [Canada] ; D. A. Pollen [États-Unis] ; D. A. Drachman [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 2000-09.
Abstract
Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin‐1, and presenilin‐2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death. Ann Neurol 2000;48:376–379
Url:
DOI: 10.1002/1531-8249(200009)48:3<376::AID-ANA13>3.0.CO;2-U
Affiliations:
- Canada, États-Unis
- Indiana, Maryland, Massachusetts, Ontario, Pennsylvanie, Washington (État)
- Toronto
- Université de Toronto
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002B09
- to stream Istex, to step Curation: 002B09
- to stream Istex, to step Checkpoint: 001225
- to stream Main, to step Merge: 003A32
- to stream Main, to step Curation: 003504
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial Alzheimer's disease: Site of mutation influences clinical phenotype</title>
<author><name sortKey="Lippa, C F" sort="Lippa, C F" uniqKey="Lippa C" first="C. F." last="Lippa">C. F. Lippa</name>
</author>
<author><name sortKey="Swearer, J M" sort="Swearer, J M" uniqKey="Swearer J" first="J. M." last="Swearer">J. M. Swearer</name>
</author>
<author><name sortKey="Kane, K J" sort="Kane, K J" uniqKey="Kane K" first="K. J." last="Kane">K. J. Kane</name>
</author>
<author><name sortKey="Nochlin, D" sort="Nochlin, D" uniqKey="Nochlin D" first="D." last="Nochlin">D. Nochlin</name>
</author>
<author><name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
</author>
<author><name sortKey="Ghetti, B" sort="Ghetti, B" uniqKey="Ghetti B" first="B." last="Ghetti">B. Ghetti</name>
</author>
<author><name sortKey="Nee, L E" sort="Nee, L E" uniqKey="Nee L" first="L. E." last="Nee">L. E. Nee</name>
</author>
<author><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name>
</author>
<author><name sortKey="Pollen, D A" sort="Pollen, D A" uniqKey="Pollen D" first="D. A." last="Pollen">D. A. Pollen</name>
</author>
<author><name sortKey="Drachman, D A" sort="Drachman, D A" uniqKey="Drachman D" first="D. A." last="Drachman">D. A. Drachman</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:7DF967544A24D6D5BCB4D9620B502CC2CBE160F1</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8249(200009)48:3<376::AID-ANA13>3.0.CO;2-U</idno>
<idno type="url">https://api-v5.istex.fr/document/7DF967544A24D6D5BCB4D9620B502CC2CBE160F1/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002B09</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002B09</idno>
<idno type="wicri:Area/Istex/Curation">002B09</idno>
<idno type="wicri:Area/Istex/Checkpoint">001225</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">001225</idno>
<idno type="wicri:doubleKey">0364-5134:2000:Lippa C:familial:alzheimer:s</idno>
<idno type="wicri:Area/Main/Merge">003A32</idno>
<idno type="wicri:Area/Main/Curation">003504</idno>
<idno type="wicri:Area/Main/Exploration">003504</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Familial Alzheimer's disease: Site of mutation influences clinical phenotype</title>
<author><name sortKey="Lippa, C F" sort="Lippa, C F" uniqKey="Lippa C" first="C. F." last="Lippa">C. F. Lippa</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Neurology, Medical College of Pennsylvania‐Hahnemann University, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Swearer, J M" sort="Swearer, J M" uniqKey="Swearer J" first="J. M." last="Swearer">J. M. Swearer</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Massachusetts Medical School, Worcester</wicri:cityArea>
</affiliation>
<affiliation></affiliation>
</author>
<author><name sortKey="Kane, K J" sort="Kane, K J" uniqKey="Kane K" first="K. J." last="Kane">K. J. Kane</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Massachusetts Medical School, Worcester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Nochlin, D" sort="Nochlin, D" uniqKey="Nochlin D" first="D." last="Nochlin">D. Nochlin</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Pathology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea>Department of Neurology, Veterans Affairs Medical Center and University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ghetti, B" sort="Ghetti, B" uniqKey="Ghetti B" first="B." last="Ghetti">B. Ghetti</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Indiana</region>
</placeName>
<wicri:cityArea>Department of Pathology, Indiana University Medical Center, Indianapolis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Nee, L E" sort="Nee, L E" uniqKey="Nee L" first="L. E." last="Nee">L. E. Nee</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Family Studies Unit, National Institute of Neurological Disorders and Stroke, Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name>
<affiliation wicri:level="4"><country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine (Neurology) and Medical Biophysics, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pollen, D A" sort="Pollen, D A" uniqKey="Pollen D" first="D. A." last="Pollen">D. A. Pollen</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Massachusetts Medical School, Worcester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Drachman, D A" sort="Drachman, D A" uniqKey="Drachman D" first="D. A." last="Drachman">D. A. Drachman</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Neurology, University of Massachusetts Medical School, Worcester</wicri:cityArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Annals of Neurology</title>
<title level="j" type="abbrev">Ann Neurol.</title>
<idno type="ISSN">0364-5134</idno>
<idno type="eISSN">1531-8249</idno>
<imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2000-09">2000-09</date>
<biblScope unit="volume">48</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="376">376</biblScope>
<biblScope unit="page" to="379">379</biblScope>
</imprint>
<idno type="ISSN">0364-5134</idno>
</series>
<idno type="istex">7DF967544A24D6D5BCB4D9620B502CC2CBE160F1</idno>
<idno type="DOI">10.1002/1531-8249(200009)48:3<376::AID-ANA13>3.0.CO;2-U</idno>
<idno type="ArticleID">ANA13</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0364-5134</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin‐1, and presenilin‐2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death. Ann Neurol 2000;48:376–379</div>
</front>
</TEI>
<affiliations><list><country><li>Canada</li>
<li>États-Unis</li>
</country>
<region><li>Indiana</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Ontario</li>
<li>Pennsylvanie</li>
<li>Washington (État)</li>
</region>
<settlement><li>Toronto</li>
</settlement>
<orgName><li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Lippa, C F" sort="Lippa, C F" uniqKey="Lippa C" first="C. F." last="Lippa">C. F. Lippa</name>
</region>
<name sortKey="Bird, T D" sort="Bird, T D" uniqKey="Bird T" first="T. D." last="Bird">T. D. Bird</name>
<name sortKey="Drachman, D A" sort="Drachman, D A" uniqKey="Drachman D" first="D. A." last="Drachman">D. A. Drachman</name>
<name sortKey="Ghetti, B" sort="Ghetti, B" uniqKey="Ghetti B" first="B." last="Ghetti">B. Ghetti</name>
<name sortKey="Kane, K J" sort="Kane, K J" uniqKey="Kane K" first="K. J." last="Kane">K. J. Kane</name>
<name sortKey="Nee, L E" sort="Nee, L E" uniqKey="Nee L" first="L. E." last="Nee">L. E. Nee</name>
<name sortKey="Nochlin, D" sort="Nochlin, D" uniqKey="Nochlin D" first="D." last="Nochlin">D. Nochlin</name>
<name sortKey="Pollen, D A" sort="Pollen, D A" uniqKey="Pollen D" first="D. A." last="Pollen">D. A. Pollen</name>
<name sortKey="Swearer, J M" sort="Swearer, J M" uniqKey="Swearer J" first="J. M." last="Swearer">J. M. Swearer</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="St George Yslop, P" sort="St George Yslop, P" uniqKey="St George Yslop P" first="P." last="St. George-Hyslop">P. St. George-Hyslop</name>
</region>
</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 003504 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003504 | 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= ISTEX:7DF967544A24D6D5BCB4D9620B502CC2CBE160F1 |texte= Familial Alzheimer's disease: Site of mutation influences clinical phenotype }}
This area was generated with Dilib version V0.6.29. |