Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Identifieur interne : 001640 ( Main/Curation ); précédent : 001639; suivant : 001641Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
Auteurs : Lorraine N. Clark [États-Unis] ; Eneli Haamer [Estonie] ; Helen Mejia-Santana [États-Unis] ; Juliette Harris [États-Unis] ; Suzanne Lesage [France] ; Alexandra Durr [France] ; Sabine Janin Bs [France] ; Katja Hedrich [Allemagne] ; Elan D. Louis [États-Unis] ; Lucien J. Cote [États-Unis] ; Howard Andrews [États-Unis] ; Stanley Fahn [États-Unis] ; Cheryl Waters [États-Unis] ; Blair Ford [États-Unis] ; Steven Frucht [États-Unis] ; William Scott [États-Unis] ; Christine Klein [Allemagne] ; Alexis Brice [France] ; Hanno Roomere [Estonie] ; Ruth Ottman [États-Unis] ; Karen Marder [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-05-15.
English descriptors
Abstract
Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age‐related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early‐onset PD case probands and 45 relatives. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21419
Links toward previous steps (curation, corpus...)
- to stream Main, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001887
Links to Exploration step
ISTEX:F9EC524F009EFCA23B88AD101ACDD054F30DF33BLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name><affiliation wicri:level="1"><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Asper Biotech, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name><affiliation wicri:level="1"><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Asper Biotech, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F9EC524F009EFCA23B88AD101ACDD054F30DF33B</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21419</idno><idno type="url">https://api.istex.fr/document/F9EC524F009EFCA23B88AD101ACDD054F30DF33B/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001887</idno><idno type="wicri:Area/Main/Curation">001640</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene</title><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation wicri:level="1"><mods:affiliation>Department of Pathology, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Haamer, Eneli" sort="Haamer, Eneli" uniqKey="Haamer E" first="Eneli" last="Haamer">Eneli Haamer</name><affiliation wicri:level="1"><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Asper Biotech, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Mejia Antana, Helen" sort="Mejia Antana, Helen" uniqKey="Mejia Antana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Durr">Alexandra Durr</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Bs, Sabine Janin" sort="Bs, Sabine Janin" uniqKey="Bs S" first="Sabine Janin" last="Bs">Sabine Janin Bs</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Cote, Lucien J" sort="Cote, Lucien J" uniqKey="Cote L" first="Lucien J." last="Cote">Lucien J. Cote</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Andrews, Howard" sort="Andrews, Howard" uniqKey="Andrews H" first="Howard" last="Andrews">Howard Andrews</name><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Fahn, Stanley" sort="Fahn, Stanley" uniqKey="Fahn S" first="Stanley" last="Fahn">Stanley Fahn</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Ford, Blair" sort="Ford, Blair" uniqKey="Ford B" first="Blair" last="Ford">Blair Ford</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Frucht, Steven" sort="Frucht, Steven" uniqKey="Frucht S" first="Steven" last="Frucht">Steven Frucht</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Scott, William" sort="Scott, William" uniqKey="Scott W" first="William" last="Scott">William Scott</name><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics, Duke University Medical Center, Durham, North Carolina</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name><affiliation wicri:level="1"><mods:affiliation>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Faculté de Médecine, Université Pierre et Marie Curie, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université Pierre et Marie Curie, Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Cytogénétique et Embryologie, Hôpital de la Pitié‐Salpêtrière, AP‐HP, Paris</wicri:regionArea></affiliation></author><author><name sortKey="Roomere, Hanno" sort="Roomere, Hanno" uniqKey="Roomere H" first="Hanno" last="Roomere">Hanno Roomere</name><affiliation wicri:level="1"><mods:affiliation>Asper Biotech, Tartu, Estonia</mods:affiliation><country xml:lang="fr">Estonie</country><wicri:regionArea>Asper Biotech, Tartu</wicri:regionArea></affiliation></author><author><name sortKey="Ottman, Ruth" sort="Ottman, Ruth" uniqKey="Ottman R" first="Ruth" last="Ottman">Ruth Ottman</name><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology of Brain Disorders, New York State Psychiatric Institute, Columbia University, New York, New York</wicri:regionArea></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation wicri:level="1"><mods:affiliation>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Gertrude H. Sergievsky Center, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Gertrude H. Sergievsky Center, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Psychiatry, College of Physicians and Surgeons, Columbia University New York, New York</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-05-15">2007-05-15</date><biblScope unit="volume">22</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="932">932</biblScope><biblScope unit="page" to="937">937</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F9EC524F009EFCA23B88AD101ACDD054F30DF33B</idno><idno type="DOI">10.1002/mds.21419</idno><idno type="ArticleID">MDS21419</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkin, Parkinson's disease</term><term>chip</term><term>genetic epidemiology</term><term>genotyping array</term><term>mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age‐related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early‐onset PD case probands and 45 relatives. © 2007 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001640 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 001640 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Curation
|type= RBID
|clé= ISTEX:F9EC524F009EFCA23B88AD101ACDD054F30DF33B
|texte= Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
}}
| This area was generated with Dilib version V0.6.23. |  |