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Identification of a rare presenilin 1 single amino acid deletion mutation (F175del) with unusual amyloid-ß processing effects.
Vöglein, Jonathan; Willem, Michael; Trambauer, Johannes; Schönecker, Sonja; Dieterich, Marianne; Biskup, Saskia; Giudici, Camilla; Utz, Kathrin; Oberstein, Timo; Brendel, Matthias; Rominger, Axel; Danek, Adrian; Steiner, Harald; Haass, Christian; Levin, Johannes.
  • Vöglein J; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Willem M; Biomedical Center (BMC), Metabolic Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Trambauer J; Biomedical Center (BMC), Metabolic Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Schönecker S; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Dieterich M; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Biskup S; Center for Genomics and Transcriptomics, Tübingen, Germany.
  • Giudici C; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Utz K; Department of Neurology, Universitätsklinikum Erlangen, Erlangen, Germany.
  • Oberstein T; Department of Psychiatry, Universitätsklinikum Erlangen, Erlangen, Germany.
  • Brendel M; Department of Nuclear Medicine, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Rominger A; Department of Nuclear Medicine, Ludwig-Maximilians-Universität München, Munich, Germany; Department of Nuclear Medicine, Inselspital, University Hospital Bern, Bern, Switzerland.
  • Danek A; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Steiner H; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Biomedical Center (BMC), Metabolic Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Haass C; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Biomedical Center (BMC), Metabolic Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
  • Levin J; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address: johannes.levin@med.uni-muenchen.de.
Neurobiol Aging ; 84: 241.e5-241.e11, 2019 12.
Article en En | MEDLINE | ID: mdl-31627977
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Péptidos beta-Amiloides / Presenilina-1 / Enfermedad de Alzheimer / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Péptidos beta-Amiloides / Presenilina-1 / Enfermedad de Alzheimer / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2019 Tipo del documento: Article