A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4773 | 2011 |
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17 M Hutton, CL Lendon, P Rizzu, M Baker, S Froelich, H Houlden, ... Nature 393 (6686), 702-705, 1998 | 4264 | 1998 |
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing BW Kunkle, B Grenier-Boley, R Sims, JC Bis, V Damotte, AC Naj, ... Nature genetics 51 (3), 414-430, 2019 | 2278 | 2019 |
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 M Baker, IR Mackenzie, SM Pickering-Brown, J Gass, R Rademakers, ... Nature 442 (7105), 916-919, 2006 | 2273 | 2006 |
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1328 | 2012 |
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins S Mizielinska, S Grönke, T Niccoli, CE Ridler, EL Clayton, A Devoy, ... Science 345 (6201), 1192-1194, 2014 | 774 | 2014 |
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration J Gass, A Cannon, IR Mackenzie, B Boeve, M Baker, J Adamson, R Crook, ... Human molecular genetics 15 (20), 2988-3001, 2006 | 659 | 2006 |
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman, LS Wang, L Klei, ... Nature genetics 43 (7), 699-705, 2011 | 625 | 2011 |
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions VM Van Deerlin, PMA Sleiman, M Martinez-Lage, A Chen-Plotkin, ... Nature genetics 42 (3), 234-239, 2010 | 606 | 2010 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 599 | 2018 |
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations JS Snowden, S Rollinson, JC Thompson, JM Harris, CL Stopford, ... Brain 135 (3), 693-708, 2012 | 590 | 2012 |
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease C Cruchaga, CM Karch, SC Jin, BA Benitez, Y Cai, R Guerreiro, O Harari, ... Nature 505 (7484), 550-554, 2014 | 526 | 2014 |
Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype H Houlden, M Baker, HR Morris, N MacDonald, S Pickering–Brown, ... Neurology 56 (12), 1702-1706, 2001 | 488 | 2001 |
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies MA Nalls, R Duran, G Lopez, M Kurzawa-Akanbi, IG McKeith, ... JAMA neurology 70 (6), 727-735, 2013 | 482 | 2013 |
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43 YJ Zhang, Y Xu, CA Dickey, E Buratti, F Baralle, R Bailey, ... Journal of Neuroscience 27 (39), 10530-10534, 2007 | 434 | 2007 |
Frontotemporal dementia and its subtypes: a genome-wide association study R Ferrari, DG Hernandez, MA Nalls, JD Rohrer, A Ramasamy, JBJ Kwok, ... The Lancet Neurology 13 (7), 686-699, 2014 | 389 | 2014 |
Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype IRA Mackenzie, A Baborie, S Pickering-Brown, DD Plessis, E Jaros, ... Acta neuropathologica 112, 539-549, 2006 | 368 | 2006 |
5′ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10 A Grover, H Houlden, M Baker, J Adamson, J Lewis, G Prihar, ... Journal of Biological Chemistry 274 (21), 15134-15143, 1999 | 366 | 1999 |
The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene IRA Mackenzie, M Baker, S Pickering-Brown, GYR Hsiung, C Lindholm, ... Brain 129 (11), 3081-3090, 2006 | 346 | 2006 |
Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43 Y Davidson, T Kelley, IRA Mackenzie, S Pickering-Brown, D Du Plessis, ... Acta neuropathologica 113, 521-533, 2007 | 343 | 2007 |