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A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, S… See abstract for full author list ➔ van der Zee J, et al. Among authors: llado a. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions.
Gelpi E, Lladó A, Clarimón J, Rey MJ, Rivera RM, Ezquerra M, Antonell A, Navarro-Otano J, Ribalta T, Piñol-Ripoll G, Pérez A, Valldeoriola F, Ferrer I. Gelpi E, et al. Among authors: llado a. J Neuropathol Exp Neurol. 2012 Sep;71(9):795-805. doi: 10.1097/NEN.0b013e318266efb1. J Neuropathol Exp Neurol. 2012. PMID: 22892522
272 results