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Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
Lopergolo, Diego; Bianchi, Silvia; Gallus, Gian Nicola; Locci, Sara; Pucci, Barbara; Leoni, Valerio; Gasparini, Daniele; Tardelli, Elisa; Chincarini, Andrea; Sestini, Stelvio; Santorelli, Filippo Maria; Zetterberg, Henrik; De Stefano, Nicola; Mignarri, Andrea.
Affiliation
  • Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Bianchi S; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Gallus GN; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Locci S; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Pucci B; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Leoni V; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Gasparini D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Tardelli E; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Chincarini A; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • Sestini S; UOC Neurologia e Neurofisiologia Clinica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Santorelli FM; Laboratory of Clinical Chemistry, Hospital of Desio, ASST Brianza, School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy.
  • Zetterberg H; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
  • De Stefano N; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Mignarri A; Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy.
J Med Genet ; 61(4): 332-339, 2024 Mar 21.
Article in En | MEDLINE | ID: mdl-37989569
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases / Niemann-Pick Disease, Type C / Alzheimer Disease / Oxysterols Limits: Humans Language: En Journal: J Med Genet Year: 2024 Type: Article Affiliation country: Italy
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodegenerative Diseases / Niemann-Pick Disease, Type C / Alzheimer Disease / Oxysterols Limits: Humans Language: En Journal: J Med Genet Year: 2024 Type: Article Affiliation country: Italy