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Article

Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition.

Journal of Alzheimer's disease : JAD - 1 Jan 2021

Sorrentino Federica, Arighi Andrea, Serpente Maria, Arosio Beatrice, Arcaro Marina, Visconte Caterina, Rotondo Emanuela, Vimercati Roberto, Ferri Evelyn, Fumagalli Giorgio G, Pietroboni Anna M, Carandini Tiziana, Scarpini Elio, Fenoglio Chiara, Galimberti Daniela

Abstract excerpt

BACKGROUND: Variants in Niemann-Pick Type C genes (NPC1 and NPC2) have been suggested to play a role as risk or disease modifying factors for Alzheimer's disease (AD). OBJECTIVE: The aim of this study was to analyze NPC1 and NPC2 variability in demented patients with evidence of brain amyloid-β 1-42 (Aβ) deposition and to correlate genetic data with clinical phenotypes. METHODS: A targeted Next Generation...

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PMID: 34420959
DOI: 10.3233/JAD-210453

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