Whole-Exome Sequencing in Familial Parkinson Disease.
Identifieur interne : 000524 ( Ncbi/Merge ); précédent : 000523; suivant : 000525Whole-Exome Sequencing in Familial Parkinson Disease.
Auteurs : Janice. Farlow ; Laurie. Robak ; Kurt Hetrick [États-Unis] ; Kevin Bowling [États-Unis] ; Eric Boerwinkle ; Zeynep. Coban [États-Unis] ; Tomasz Gambin [États-Unis] ; Richard. Gibbs [États-Unis] ; Shen Gu [États-Unis] ; Preti Jain [États-Unis] ; Joseph Jankovic [États-Unis] ; Shalini Jhangiani [États-Unis] ; Kaveeta Kaw ; Dongbing Lai ; Hai Lin ; Hua Ling [États-Unis] ; Yunlong Liu ; James. Lupski ; Donna Muzny [États-Unis] ; Paula Porter ; Elizabeth Pugh [États-Unis] ; Janson White [États-Unis] ; Kimberly Doheny [États-Unis] ; Richard. Myers [États-Unis] ; Joshua. Shulman ; Tatiana ForoudSource :
- JAMA neurology ; 2016.
Abstract
Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
DOI: 10.1001/jamaneurol.2015.3266
PubMed: 26595808
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Robak</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston5Jan and Dan Duncan Neurological Resear.</nlm:affiliation><wicri:noCountry code="subField">Houston5Jan and Dan Duncan Neurological Resear</wicri:noCountry></affiliation></author><author><name sortKey="Hetrick, Kurt" sort="Hetrick, Kurt" uniqKey="Hetrick K" first="Kurt" last="Hetrick">Kurt Hetrick</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Bowling, Kevin" sort="Bowling, Kevin" uniqKey="Bowling K" first="Kevin" last="Bowling">Kevin Bowling</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Alabama</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville</wicri:cityArea></affiliation></author><author><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name><affiliation><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas9Human Genetics Center, University of Texas Health Science Center, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Coban Akdemir, Zeynep H" sort="Coban Akdemir, Zeynep H" uniqKey="Coban Akdemir Z" first="Zeynep" last="Coban">Zeynep. Coban</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gambin, Tomasz" sort="Gambin, Tomasz" uniqKey="Gambin T" first="Tomasz" last="Gambin">Tomasz Gambin</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard" last="Gibbs">Richard. Gibbs</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gu, Shen" sort="Gu, Shen" uniqKey="Gu S" first="Shen" last="Gu">Shen Gu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Jain, Preti" sort="Jain, Preti" uniqKey="Jain P" first="Preti" last="Jain">Preti Jain</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama10Department of Pediatrics, Columbia University Medical Center, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama10Department of Pediatrics, Columbia University Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Jhangiani, Shalini" sort="Jhangiani, Shalini" uniqKey="Jhangiani S" first="Shalini" last="Jhangiani">Shalini Jhangiani</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Kaw, Kaveeta" sort="Kaw, Kaveeta" uniqKey="Kaw K" first="Kaveeta" last="Kaw">Kaveeta Kaw</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Lai, Dongbing" sort="Lai, Dongbing" uniqKey="Lai D" first="Dongbing" last="Lai">Dongbing Lai</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Lin, Hai" sort="Lin, Hai" uniqKey="Lin H" first="Hai" last="Lin">Hai Lin</name><affiliation><nlm:affiliation>Department of BioHealth Informatics, Indiana University School of Informatics and Computing, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Ling, Hua" sort="Ling, Hua" uniqKey="Ling H" first="Hua" last="Ling">Hua Ling</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Liu, Yunlong" sort="Liu, Yunlong" uniqKey="Liu Y" first="Yunlong" last="Liu">Yunlong Liu</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James" last="Lupski">James. Lupski</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston8Human Genome Sequencing Center, Baylor.</nlm:affiliation><wicri:noCountry code="subField">Baylor</wicri:noCountry></affiliation></author><author><name sortKey="Muzny, Donna" sort="Muzny, Donna" uniqKey="Muzny D" first="Donna" last="Muzny">Donna Muzny</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Porter, Paula" sort="Porter, Paula" uniqKey="Porter P" first="Paula" last="Porter">Paula Porter</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Pugh, Elizabeth" sort="Pugh, Elizabeth" uniqKey="Pugh E" first="Elizabeth" last="Pugh">Elizabeth Pugh</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="White, Janson" sort="White, Janson" uniqKey="White J" first="Janson" last="White">Janson White</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Doheny, Kimberly" sort="Doheny, Kimberly" uniqKey="Doheny K" first="Kimberly" last="Doheny">Kimberly Doheny</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard" last="Myers">Richard. Myers</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Alabama</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville</wicri:cityArea></affiliation></author><author><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua" last="Shulman">Joshua. Shulman</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston11Department of Neurology, Baylor College of Medicine, Houston, Texas13Department.</nlm:affiliation><wicri:noCountry code="subField">Texas13Department</wicri:noCountry></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="doi">10.1001/jamaneurol.2015.3266</idno><idno type="RBID">pubmed:26595808</idno><idno type="pmid">26595808</idno><idno type="wicri:Area/PubMed/Corpus">000002</idno><idno type="wicri:Area/PubMed/Curation">000002</idno><idno type="wicri:Area/PubMed/Checkpoint">000000</idno><idno type="wicri:Area/Ncbi/Merge">000524</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Whole-Exome Sequencing in Familial Parkinson Disease.</title><author><name sortKey="Farlow, Janice L" sort="Farlow, Janice L" uniqKey="Farlow J" first="Janice" last="Farlow">Janice. Farlow</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Robak, Laurie A" sort="Robak, Laurie A" uniqKey="Robak L" first="Laurie" last="Robak">Laurie. Robak</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston5Jan and Dan Duncan Neurological Resear.</nlm:affiliation><wicri:noCountry code="subField">Houston5Jan and Dan Duncan Neurological Resear</wicri:noCountry></affiliation></author><author><name sortKey="Hetrick, Kurt" sort="Hetrick, Kurt" uniqKey="Hetrick K" first="Kurt" last="Hetrick">Kurt Hetrick</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Bowling, Kevin" sort="Bowling, Kevin" uniqKey="Bowling K" first="Kevin" last="Bowling">Kevin Bowling</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Alabama</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville</wicri:cityArea></affiliation></author><author><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name><affiliation><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas9Human Genetics Center, University of Texas Health Science Center, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Coban Akdemir, Zeynep H" sort="Coban Akdemir, Zeynep H" uniqKey="Coban Akdemir Z" first="Zeynep" last="Coban">Zeynep. Coban</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gambin, Tomasz" sort="Gambin, Tomasz" uniqKey="Gambin T" first="Tomasz" last="Gambin">Tomasz Gambin</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard" last="Gibbs">Richard. Gibbs</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Gu, Shen" sort="Gu, Shen" uniqKey="Gu S" first="Shen" last="Gu">Shen Gu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Jain, Preti" sort="Jain, Preti" uniqKey="Jain P" first="Preti" last="Jain">Preti Jain</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama10Department of Pediatrics, Columbia University Medical Center, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama10Department of Pediatrics, Columbia University Medical Center, New York</wicri:cityArea></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Neurology, Baylor College of Medicine, Houston</wicri:cityArea><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author><author><name sortKey="Jhangiani, Shalini" sort="Jhangiani, Shalini" uniqKey="Jhangiani S" first="Shalini" last="Jhangiani">Shalini Jhangiani</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Kaw, Kaveeta" sort="Kaw, Kaveeta" uniqKey="Kaw K" first="Kaveeta" last="Kaw">Kaveeta Kaw</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Lai, Dongbing" sort="Lai, Dongbing" uniqKey="Lai D" first="Dongbing" last="Lai">Dongbing Lai</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Lin, Hai" sort="Lin, Hai" uniqKey="Lin H" first="Hai" last="Lin">Hai Lin</name><affiliation><nlm:affiliation>Department of BioHealth Informatics, Indiana University School of Informatics and Computing, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Ling, Hua" sort="Ling, Hua" uniqKey="Ling H" first="Hua" last="Ling">Hua Ling</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Liu, Yunlong" sort="Liu, Yunlong" uniqKey="Liu Y" first="Yunlong" last="Liu">Yunlong Liu</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author><author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James" last="Lupski">James. Lupski</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston8Human Genome Sequencing Center, Baylor.</nlm:affiliation><wicri:noCountry code="subField">Baylor</wicri:noCountry></affiliation></author><author><name sortKey="Muzny, Donna" sort="Muzny, Donna" uniqKey="Muzny D" first="Donna" last="Muzny">Donna Muzny</name><affiliation wicri:level="2"><nlm:affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Human Genome Sequencing Center, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Porter, Paula" sort="Porter, Paula" uniqKey="Porter P" first="Paula" last="Porter">Paula Porter</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</nlm:affiliation><wicri:noCountry code="subField">Houston</wicri:noCountry></affiliation></author><author><name sortKey="Pugh, Elizabeth" sort="Pugh, Elizabeth" uniqKey="Pugh E" first="Elizabeth" last="Pugh">Elizabeth Pugh</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="White, Janson" sort="White, Janson" uniqKey="White J" first="Janson" last="White">Janson White</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Doheny, Kimberly" sort="Doheny, Kimberly" uniqKey="Doheny K" first="Kimberly" last="Doheny">Kimberly Doheny</name><affiliation wicri:level="2"><nlm:affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard" last="Myers">Richard. Myers</name><affiliation wicri:level="2"><nlm:affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Alabama</region></placeName><wicri:cityArea>HudsonAlpha Institute for Biotechnology, Huntsville</wicri:cityArea></affiliation></author><author><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua" last="Shulman">Joshua. Shulman</name><affiliation><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston11Department of Neurology, Baylor College of Medicine, Houston, Texas13Department.</nlm:affiliation><wicri:noCountry code="subField">Texas13Department</wicri:noCountry></affiliation></author><author><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><affiliation><nlm:affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</nlm:affiliation><wicri:noCountry code="subField">Indianapolis</wicri:noCountry></affiliation></author></analytic><series><title level="j">JAMA neurology</title><idno type="e-ISSN">2168-6157</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="In-Data-Review"><PMID Version="1">26595808</PMID><DateCreated><Year>2016</Year><Month>01</Month><Day>12</Day></DateCreated><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">2168-6157</ISSN><JournalIssue CitedMedium="Internet"><Volume>73</Volume><Issue>1</Issue><PubDate><Year>2016</Year><Month>Jan</Month><Day>1</Day></PubDate></JournalIssue><Title>JAMA neurology</Title><ISOAbbreviation>JAMA Neurol</ISOAbbreviation></Journal><ArticleTitle>Whole-Exome Sequencing in Familial Parkinson Disease.</ArticleTitle><Pagination><MedlinePgn>68-75</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1001/jamaneurol.2015.3266</ELocationID><Abstract><AbstractText Label="IMPORTANCE" NlmCategory="OBJECTIVE">Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To identify genetic variants contributing to disease risk in familial PD.</AbstractText><AbstractText Label="DESIGN, SETTING, AND PARTICIPANTS" NlmCategory="METHODS">A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the discovery cohort, rare exonic variants that segregated in multiple affected individuals in a family and were predicted to be conserved or damaging were retained. Genes with retained variants were prioritized if expressed in the brain and located within PD-relevant pathways. Genes in which prioritized variants were observed in at least 4 families were selected as candidate genes for replication in the replication cohort. The setting was among individuals with familial PD enrolled from academic movement disorder specialty clinics across the United States. All participants had a family history of PD.</AbstractText><AbstractText Label="MAIN OUTCOMES AND MEASURES" NlmCategory="METHODS">Identification of genes containing rare, likely deleterious, genetic variants in individuals with familial PD using a 2-stage exome sequencing study design.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The 93 individuals from 32 families in the discovery cohort (49.5% [46 of 93] female) had a mean (SD) age at onset of 61.8 (10.0) years. The 49 individuals with familial PD in the replication cohort (32.6% [16 of 49] female) had a mean (SD) age at onset of 50.1 (15.7) years. Discovery cohort recruitment dates were 1999 to 2009, and replication cohort recruitment dates were 2003 to 2014. Data analysis dates were 2011 to 2015. Three genes containing a total of 13 rare and potentially damaging variants were prioritized in the discovery cohort. Two of these genes (TNK2 and TNR) also had rare variants that were predicted to be damaging in the replication cohort. All 9 variants identified in the 2 replicated genes in 12 families across the discovery and replication cohorts were confirmed via Sanger sequencing.</AbstractText><AbstractText Label="CONCLUSIONS AND RELEVANCE" NlmCategory="CONCLUSIONS">TNK2 and TNR harbored rare, likely deleterious, variants in individuals having familial PD, with similar findings in an independent cohort. To our knowledge, these genes have not been previously associated with PD, although they have been linked to critical neuronal functions. Further studies are required to confirm a potential role for these genes in the pathogenesis of PD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Farlow</LastName><ForeName>Janice L</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Robak</LastName><ForeName>Laurie A</ForeName><Initials>LA</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston5Jan and Dan Duncan Neurological Resear.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hetrick</LastName><ForeName>Kurt</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bowling</LastName><ForeName>Kevin</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boerwinkle</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas9Human Genetics Center, University of Texas Health Science Center, Houston.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coban-Akdemir</LastName><ForeName>Zeynep H</ForeName><Initials>ZH</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gambin</LastName><ForeName>Tomasz</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gibbs</LastName><ForeName>Richard A</ForeName><Initials>RA</Initials><AffiliationInfo><Affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gu</LastName><ForeName>Shen</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jain</LastName><ForeName>Preti</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama10Department of Pediatrics, Columbia University Medical Center, New York, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jankovic</LastName><ForeName>Joseph</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jhangiani</LastName><ForeName>Shalini</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kaw</LastName><ForeName>Kaveeta</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lai</LastName><ForeName>Dongbing</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lin</LastName><ForeName>Hai</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of BioHealth Informatics, Indiana University School of Informatics and Computing, Indianapolis.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ling</LastName><ForeName>Hua</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Liu</LastName><ForeName>Yunlong</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lupski</LastName><ForeName>James R</ForeName><Initials>JR</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas3Department of Pediatrics, Baylor College of Medicine, Houston, Texas4Department of Pediatrics, Texas Children's Hospital, Houston8Human Genome Sequencing Center, Baylor.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Muzny</LastName><ForeName>Donna</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Porter</LastName><ForeName>Paula</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pugh</LastName><ForeName>Elizabeth</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>White</LastName><ForeName>Janson</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Doheny</LastName><ForeName>Kimberly</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Center for Inherited Disease Research, The Johns Hopkins University, Baltimore, Maryland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Myers</LastName><ForeName>Richard M</ForeName><Initials>RM</Initials><AffiliationInfo><Affiliation>HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Shulman</LastName><ForeName>Joshua M</ForeName><Initials>JM</Initials><AffiliationInfo><Affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas5Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston11Department of Neurology, Baylor College of Medicine, Houston, Texas13Department.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Foroud</LastName><ForeName>Tatiana</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>JAMA Neurol</MedlineTA><NlmUniqueID>101589536</NlmUniqueID><ISSNLinking>2168-6149</ISSNLinking></MedlineJournalInfo><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>11</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">2470417</ArticleId><ArticleId IdType="doi">10.1001/jamaneurol.2015.3266</ArticleId><ArticleId IdType="pubmed">26595808</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country><region><li>Alabama</li><li>Maryland</li><li>Texas</li><li>État de New York</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><noCountry><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name><name sortKey="Farlow, Janice L" sort="Farlow, Janice L" uniqKey="Farlow J" first="Janice" last="Farlow">Janice. Farlow</name><name sortKey="Foroud, Tatiana" sort="Foroud, Tatiana" uniqKey="Foroud T" first="Tatiana" last="Foroud">Tatiana Foroud</name><name sortKey="Kaw, Kaveeta" sort="Kaw, Kaveeta" uniqKey="Kaw K" first="Kaveeta" last="Kaw">Kaveeta Kaw</name><name sortKey="Lai, Dongbing" sort="Lai, Dongbing" uniqKey="Lai D" first="Dongbing" last="Lai">Dongbing Lai</name><name sortKey="Lin, Hai" sort="Lin, Hai" uniqKey="Lin H" first="Hai" last="Lin">Hai Lin</name><name sortKey="Liu, Yunlong" sort="Liu, Yunlong" uniqKey="Liu Y" first="Yunlong" last="Liu">Yunlong Liu</name><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James" last="Lupski">James. Lupski</name><name sortKey="Porter, Paula" sort="Porter, Paula" uniqKey="Porter P" first="Paula" last="Porter">Paula Porter</name><name sortKey="Robak, Laurie A" sort="Robak, Laurie A" uniqKey="Robak L" first="Laurie" last="Robak">Laurie. Robak</name><name sortKey="Shulman, Joshua M" sort="Shulman, Joshua M" uniqKey="Shulman J" first="Joshua" last="Shulman">Joshua. Shulman</name></noCountry><country name="États-Unis"><region name="Maryland"><name sortKey="Hetrick, Kurt" sort="Hetrick, Kurt" uniqKey="Hetrick K" first="Kurt" last="Hetrick">Kurt Hetrick</name></region><name sortKey="Bowling, Kevin" sort="Bowling, Kevin" uniqKey="Bowling K" first="Kevin" last="Bowling">Kevin Bowling</name><name sortKey="Coban Akdemir, Zeynep H" sort="Coban Akdemir, Zeynep H" uniqKey="Coban Akdemir Z" first="Zeynep" last="Coban">Zeynep. Coban</name><name sortKey="Doheny, Kimberly" sort="Doheny, Kimberly" uniqKey="Doheny K" first="Kimberly" last="Doheny">Kimberly Doheny</name><name sortKey="Gambin, Tomasz" sort="Gambin, Tomasz" uniqKey="Gambin T" first="Tomasz" last="Gambin">Tomasz Gambin</name><name sortKey="Gibbs, Richard A" sort="Gibbs, Richard A" uniqKey="Gibbs R" first="Richard" last="Gibbs">Richard. Gibbs</name><name sortKey="Gu, Shen" sort="Gu, Shen" uniqKey="Gu S" first="Shen" last="Gu">Shen Gu</name><name sortKey="Jain, Preti" sort="Jain, Preti" uniqKey="Jain P" first="Preti" last="Jain">Preti Jain</name><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><name sortKey="Jhangiani, Shalini" sort="Jhangiani, Shalini" uniqKey="Jhangiani S" first="Shalini" last="Jhangiani">Shalini Jhangiani</name><name sortKey="Ling, Hua" sort="Ling, Hua" uniqKey="Ling H" first="Hua" last="Ling">Hua Ling</name><name sortKey="Muzny, Donna" sort="Muzny, Donna" uniqKey="Muzny D" first="Donna" last="Muzny">Donna Muzny</name><name sortKey="Myers, Richard M" sort="Myers, Richard M" uniqKey="Myers R" first="Richard" last="Myers">Richard. Myers</name><name sortKey="Pugh, Elizabeth" sort="Pugh, Elizabeth" uniqKey="Pugh E" first="Elizabeth" last="Pugh">Elizabeth Pugh</name><name sortKey="White, Janson" sort="White, Janson" uniqKey="White J" first="Janson" last="White">Janson White</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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