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Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.
Le Guennec, Kilan; Veugelen, Sarah; Quenez, Olivier; Szaruga, Maria; Rousseau, Stéphane; Nicolas, Gaël; Wallon, David; Fluchere, Frédérique; Frébourg, Thierry; De Strooper, Bart; Campion, Dominique; Chávez-Gutiérrez, Lucía; Rovelet-Lecrux, Anne.
Afiliação
  • Le Guennec K; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • Veugelen S; VIB - Center for Brain and Disease Research, University of Leuven, 3000 Leuven, Belgium; Center for Human Genetics, Leuven Research Institute for Neuroscience & Disease (LIND), University of Leuven, 3000 Leuven, Belgium.
  • Quenez O; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • Szaruga M; VIB - Center for Brain and Disease Research, University of Leuven, 3000 Leuven, Belgium; Center for Human Genetics, Leuven Research Institute for Neuroscience & Disease (LIND), University of Leuven, 3000 Leuven, Belgium.
  • Rousseau S; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • Wallon D; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Neurology and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • Fluchere F; Department of Neurology and Movement Disorders, APHM, La Timone, Pôle de Neurosciences cliniques, Aix-Marseille Univ, Marseille, France.
  • Frébourg T; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France.
  • De Strooper B; VIB - Center for Brain and Disease Research, University of Leuven, 3000 Leuven, Belgium; Center for Human Genetics, Leuven Research Institute for Neuroscience & Disease (LIND), University of Leuven, 3000 Leuven, Belgium; Institute of Neurology, University College London, Queen Square, WC1N 3BG L
  • Campion D; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France; Department of Research, Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.
  • Chávez-Gutiérrez L; VIB - Center for Brain and Disease Research, University of Leuven, 3000 Leuven, Belgium; Center for Human Genetics, Leuven Research Institute for Neuroscience & Disease (LIND), University of Leuven, 3000 Leuven, Belgium.
  • Rovelet-Lecrux A; Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address: anne.roveletlecrux@univ-rouen.fr.
Neurobiol Dis ; 104: 97-103, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28461250
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Deleção de Sequência / Presenilina-1 / Doença de Alzheimer / Amiloide Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Éxons / Deleção de Sequência / Presenilina-1 / Doença de Alzheimer / Amiloide Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article