Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS M DeJesus-Hernandez, IR Mackenzie, BF Boeve, AL Boxer, M Baker, ... Neuron 72 (2), 245-256, 2011 | 5574 | 2011 |
TREM2 Variants in Alzheimer's Disease R Guerreiro, A Wojtas, J Bras, M Carrasquillo, E Rogaeva, E Majounie, ... New England Journal of Medicine 368 (2), 117-127, 2013 | 3265 | 2013 |
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 | 2322 | 2006 |
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 M Cruts, I Gijselinck, J Van Der Zee, S Engelborghs, H Wils, D Pirici, ... Nature 442 (7105), 920-924, 2006 | 1734 | 2006 |
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore, Z Diaz, ... Nature 495 (7442), 467-473, 2013 | 1600 | 2013 |
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS PEA Ash, KF Bieniek, TF Gendron, T Caulfield, WL Lin, ... Neuron 77 (4), 639-646, 2013 | 1260 | 2013 |
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report PT Nelson, DW Dickson, JQ Trojanowski, CR Jack, PA Boyle, K Arfanakis, ... Brain 142 (6), 1503-1527, 2019 | 1197 | 2019 |
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia IRA Mackenzie, R Rademakers, M Neumann The Lancet Neurology 9 (10), 995-1007, 2010 | 1179 | 2010 |
A new subtype of frontotemporal lobar degeneration with FUS pathology M Neumann, R Rademakers, S Roeber, M Baker, HA Kretzschmar, ... Brain 132 (11), 2922-2931, 2009 | 896 | 2009 |
TDP‐43 A315T mutation in familial motor neuron disease MA Gitcho, RH Baloh, S Chakraverty, K Mayo, JB Norton, D Levitch, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 773 | 2008 |
Progranulin deficiency promotes circuit-specific synaptic pruning by microglia via complement activation H Lui, J Zhang, SR Makinson, MK Cahill, KW Kelley, HY Huang, Y Shang, ... Cell 165 (4), 921-935, 2016 | 700 | 2016 |
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 | 675 | 2006 |
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS TF Gendron, KF Bieniek, YJ Zhang, K Jansen-West, PEA Ash, T Caulfield, ... Acta neuropathologica 126, 829-844, 2013 | 659 | 2013 |
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 | 650 | 2011 |
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 | 647 | 2018 |
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 | 629 | 2010 |
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice YF Xu, TF Gendron, YJ Zhang, WL Lin, S D'Alton, H Sheng, MC Casey, ... Journal of Neuroscience 30 (32), 10851-10859, 2010 | 623 | 2010 |
Longitudinal Modeling of Age-Related Memory Decline and the APOE ε4 Effect RJ Caselli, AC Dueck, D Osborne, MN Sabbagh, DJ Connor, GL Ahern, ... New England Journal of Medicine 361 (3), 255-263, 2009 | 618 | 2009 |
TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics IR Mackenzie, AM Nicholson, M Sarkar, J Messing, MD Purice, C Pottier, ... Neuron 95 (4), 808-816. e9, 2017 | 609 | 2017 |
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD CC Chou, YI Zhang, ME Umoh, SW Vaughan, I Lorenzini, F Liu, ... Nature neuroscience 21 (2), 228-239, 2018 | 560 | 2018 |