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Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy.
Chen, Zhongbo; Chen, Jason A; Shatunov, Aleksey; Jones, Ashley R; Kravitz, Stephanie N; Huang, Alden Y; Lawrence, Lauren; Lowe, Jennifer K; Lewis, Cathryn M; Payan, Christine A M; Lieb, Wolfgang; Franke, Andre; Deloukas, Panagiotis; Amouyel, Philippe; Tzourio, Christophe; Dartigues, Jean-François; Ludolph, Albert; Bensimon, Gilbert; Leigh, P Nigel; Bronstein, Jeff M; Coppola, Giovanni; Geschwind, Daniel H; Al-Chalabi, Ammar.
  • Chen Z; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Chen JA; Interdepartmental Program in Bioinformatics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Shatunov A; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Jones AR; Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, King's College London, London, UK.
  • Kravitz SN; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Huang AY; Interdepartmental Program in Bioinformatics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Lawrence L; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Lowe JK; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Lewis CM; Social, Genetic and Developmental Psychiatry Centre, and Department of Medical and Molecular Genetics, King's College London, UK.
  • Payan CAM; Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpétrière, Assistance Publique Hôpitaux de Paris, Paris; Pharmacologie, Universités Paris-Sorbonne, UPMC Paris 06, Paris, France.
  • Lieb W; Institute of Epidemiology and Biobank Popgen, Christian Albrechts Universitat zu Kiel, Kiel, Germany.
  • Franke A; Institute of Clinical Molecular Biology, Christian Albrechts Universitat zu Kiel, Kiel, Germany.
  • Deloukas P; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK.
  • Amouyel P; Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1167 - RID-AGE - Risk Factor and Molecular Determinants of Aging Diseases, Labex-Distalz, Lille, France.
  • Tzourio C; University of Bordeaux, INSERM, Bordeaux Population Health Research Centre, UMR-1219, CHU Bordeaux, France.
  • Dartigues JF; University of Bordeaux, INSERM, Bordeaux Population Health Research Centre, UMR-1219, CHU Bordeaux, France.
  • Ludolph A; Department of Neurology, University of Ulm, Oberer Eselsberg, Ulm, Germany.
  • Bensimon G; Département de Pharmacologie Clinique, Hôpital de la Pitié-Salpétrière, Assistance Publique Hôpitaux de Paris, Paris; Pharmacologie, Universités Paris-Sorbonne, UPMC Paris 06, Paris, France.
  • Leigh PN; Trafford Centre for Biomedical Research, Brighton and Sussex Medical School, University of Sussex, Falmer, Brighton, UK.
  • Bronstein JM; Program in Movement Disorders, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Coppola G; Interdepartmental Program in Bioinformatics, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Geschwind DH; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
  • Al-Chalabi A; Center for Neurobehavioral Genetics, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Mov Disord ; 34(7): 1049-1059, 2019 07.
Article en En | MEDLINE | ID: mdl-31059154
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Parálisis Supranuclear Progresiva / Proteínas tau / Variaciones en el Número de Copia de ADN / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Parálisis Supranuclear Progresiva / Proteínas tau / Variaciones en el Número de Copia de ADN / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Año: 2019 Tipo del documento: Article