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Neurogenetics
Original research
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Authors

  • Diego Lopergolo Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Silvia Bianchi Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Gian Nicola Gallus Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Sara Locci Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Barbara Pucci Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Neurofisiologia Clinica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Valerio Leoni Laboratory of Clinical Chemistry, Hospital of Desio, ASST Brianza, School of Medicine and Surgery, University of Milano Bicocca, Milan, Italy PubMed articlesGoogle scholar articles
  • Daniele Gasparini Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Elisa Tardelli Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy PubMed articlesGoogle scholar articles
  • Andrea Chincarini National Institute of Nuclear Physics ((INFN), Genoa, Italy PubMed articlesGoogle scholar articles
  • Stelvio Sestini Unit of Nuclear Medicine, Department of Diagnostic Imaging, PO - S. Stefano, Azienda U.S.L. Toscana Centro, Prato, italy PubMed articlesGoogle scholar articles
  • Filippo Maria Santorelli Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Calambrone, Italy PubMed articlesGoogle scholar articles
  • Henrik Zetterberg Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden UK Dementia Research Institute at UCL, London, UK Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK Hong Kong Center for Neurodegenerative Diseases, Hong Kong Special Administrative Region, People's Republic of China PubMed articlesGoogle scholar articles
  • Nicola De Stefano Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  • Andrea Mignarri Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Andrea Mignarri, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, 53100, Italy; andrea.mignarri{at}ao-siena.toscana.it
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Citation

Lopergolo D, Bianchi S, Gallus GN, et al
Familial Alzheimer’s disease associated with heterozygous NPC1 mutation
Journal of Medical Genetics 2024;61:332-339.

Publication history

  • Received February 14, 2023
  • Accepted October 14, 2023
  • First published November 21, 2023.
Online issue publication 
March 21, 2024

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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.