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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, Synofzik… See abstract for full author list ➔ van der Zee J, et al. Among authors: nennesmo i. 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.
No common founder for C9orf72 expansion mutation in Sweden.
Chiang HH, Forsell C, Lindström AK, Lilius L, Thonberg H, Nennesmo I, Graff C. Chiang HH, et al. Among authors: nennesmo i. J Hum Genet. 2017 Feb;62(2):321-324. doi: 10.1038/jhg.2016.108. Epub 2016 Aug 25. J Hum Genet. 2017. PMID: 27557666
Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP.
Thams S, Paucar M, Wingård L, Thonberg H, Smith C, Nennesmo I, Svenningsson P. Thams S, et al. Among authors: nennesmo i. Neurol Genet. 2021 Nov 3;7(6):e636. doi: 10.1212/NXG.0000000000000636. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34746379 Free PMC article. No abstract available.
Antemortem Prediction of Braak Stage.
Carlson JO, Gatz M, Pedersen NL, Graff C, Nennesmo I, Lindström AK, Gerritsen L. Carlson JO, et al. Among authors: nennesmo i. J Neuropathol Exp Neurol. 2015 Nov;74(11):1061-70. doi: 10.1097/NEN.0000000000000251. J Neuropathol Exp Neurol. 2015. PMID: 26469248 Free PMC article.
141 results