• C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts 

      Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manual; Kia, Demis A.; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole Andreas; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Mercè; Borroni, Barbara; Bowns, Lucy; Bråthen, Geir; Bruni, Amalia C; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E; Cope, Tom E; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dusan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Mauricio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H; Grossman, Murray; Hardy, John; Hernández, Isabel; Holloway, Guy J T; Huey, Edward D; Illán-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G.; Kristiansen, Mark K; Sando, Sigrid Botne (Peer reviewed; Journal article, 2020)
      Objective: We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European ...
    • Stable cerebrospinal fluid neurogranin and β-site amyloid precursor protein cleaving enzyme 1 levels differentiate predementia Alzheimer's disease patients 

      Kirsebom, Bjørn-Eivind; Richter, Grit; Nordengen, Kaja; Aarsland, Dag; Bråthen, Geir; Tijms, Betty M; Visser, Pieter Jelle; Nilsson, Johanna; Selnes, Per; Kramberger, Milica G.; Winblad, Bengt; Waterloo, Knut; Gísladóttir, Berglind; Blennow, Kaj; Fladby, Tormod (Peer reviewed; Journal article, 2022)
      Cerebrospinal fluid (CSF) β-site amyloid precursor protein cleaving enzyme 1 (BACE1), neurogranin and the neurogranin/BACE1 ratio are proposed markers for Alzheimer’s disease. BACE1 is also a drug target. However, CSF ...