A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

We assessed the geographical distribution of C9orf72 G4C2 expansions in a pan-European frontotemporal lobar degeneration (FTLD) cohort (n = 1,205), ascertained by the European Early-Onset Dementia (EOD) consortium. Next, we performed a meta-analysis of our data and that of other European studies, to...

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Main Authors: van der Zee, Julie, Gijselinck, Ilse, Dillen, Lubina, Van Langenhove, Tim, Theuns, Jessie, Engelborghs, Sebastiaan, Philtjens, Stéphanie, Vandenbulcke, Mathieu, Sleegers, Kristel, Sieben, Anne, Bäumer, Veerle, Maes, Githa, Corsmit, Ellen, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Perneczky, Robert, Diehl-Schmid, Janine, de Mendonça, Alexandre, Miltenberger-Miltenyi, Gabriel, Pereira, Sónia, Pimentel, José, Nacmias, Benedetta, Bagnoli, Silvia, Sorbi, Sandro, Graff, Caroline, Chiang, Huei-Hsin, Westerlund, Marie, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Frisoni, Giovanni, Zanetti, Orazio, Bonvicini, Cristian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Heneka, Michael T, Jessen, Frank, Matej, Radoslav, Parobkova, Eva, Kovacs, Gabor G, Ströbel, Thomas, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Danek, Adrian, Arzberger, Thomas, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Santens, Patrick, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Van Broeckhoven, Christine
Format: Online
Language:English
Published: Blackwell Publishing Ltd 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346/