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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: lilius l. 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
Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.
Mehrabian S, Thonberg H, Raycheva M, Lilius L, Stoyanova K, Forsell C, Cavallin L, Nesheva D, Westman E, Toncheva D, Traykov L, Winblad B, Graff C. Mehrabian S, et al. Among authors: lilius l. PLoS One. 2018 Dec 14;13(12):e0208383. doi: 10.1371/journal.pone.0208383. eCollection 2018. PLoS One. 2018. PMID: 30550541 Free PMC article.
Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.
Rohrer JD, Nicholas JM, Cash DM, van Swieten J, Dopper E, Jiskoot L, van Minkelen R, Rombouts SA, Cardoso MJ, Clegg S, Espak M, Mead S, Thomas DL, De Vita E, Masellis M, Black SE, Freedman M, Keren R, MacIntosh BJ, Rogaeva E, Tang-Wai D, Tartaglia MC, Laforce R Jr, Tagliavini F, Tiraboschi P, Redaelli V, Prioni S, Grisoli M, Borroni B, Padovani A, Galimberti D, Scarpini E, Arighi A, Fumagalli G, Rowe JB, Coyle-Gilchrist I, Graff C, Fallström M, Jelic V, Ståhlbom AK, Andersson C, Thonberg H, Lilius L, Frisoni GB, Pievani M, Bocchetta M, Benussi L, Ghidoni R, Finger E, Sorbi S, Nacmias B, Lombardi G, Polito C, Warren JD, Ourselin S, Fox NC, Rossor MN, Binetti G. Rohrer JD, et al. Among authors: lilius l. Lancet Neurol. 2015 Mar;14(3):253-62. doi: 10.1016/S1474-4422(14)70324-2. Epub 2015 Feb 4. Lancet Neurol. 2015. PMID: 25662776 Free PMC article.
Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.
Thonberg H, Chiang HH, Lilius L, Forsell C, Lindström AK, Johansson C, Björkström J, Thordardottir S, Sleegers K, Van Broeckhoven C, Rönnbäck A, Graff C. Thonberg H, et al. Among authors: lilius l. Acta Neuropathol Commun. 2017 Jun 9;5(1):43. doi: 10.1186/s40478-017-0441-9. Acta Neuropathol Commun. 2017. PMID: 28595629 Free PMC article.
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, … See abstract for full author list ➔ Sims R, et al. Among authors: lilius l. Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714976 Free PMC article.
49 results