Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis TJ Kwiatkowski Jr, DA Bosco, AL Leclerc, E Tamrazian, CR Vanderburg, ... Science 323 (5918), 1205-1208, 2009 | 3191 | 2009 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1062 | 2015 |
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp, K Piotrowska, P Lowe, ... Nature 488 (7412), 499-503, 2012 | 770 | 2012 |
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 | 664 | 2018 |
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis W Van Rheenen, A Shatunov, AM Dekker, RL McLaughlin, FP Diekstra, ... Nature genetics 48 (9), 1043-1048, 2016 | 642 | 2016 |
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS CY Chow, JE Landers, SK Bergren, PC Sapp, AE Grant, JM Jones, ... The American Journal of Human Genetics 84 (1), 85-88, 2009 | 529 | 2009 |
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis MA Van Es, JH Veldink, CGJ Saris, HM Blauw, PWJ van Vught, A Birve, ... Nature genetics 41 (10), 1083-1087, 2009 | 461 | 2009 |
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS BN Smith, N Ticozzi, C Fallini, AS Gkazi, S Topp, KP Kenna, EL Scotter, ... Neuron 84 (2), 324-331, 2014 | 451 | 2014 |
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 396 | 2021 |
Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration CL Simpson, R Lemmens, K Miskiewicz, WJ Broom, VK Hansen, ... Human molecular genetics 18 (3), 472-481, 2009 | 369 | 2009 |
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ... Nature genetics 48 (9), 1037-1042, 2016 | 316 | 2016 |
Translational Enhancement of mdm2 Oncogene Expression in Human Tumor Cells Containing a Stabilized Wild-Type p53 Protein JE Landers, SL Cassel, DL George Cancer research 57 (16), 3562-3568, 1997 | 301 | 1997 |
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study A Shatunov, K Mok, S Newhouse, ME Weale, B Smith, C Vance, ... The Lancet Neurology 9 (10), 986-994, 2010 | 285 | 2010 |
The C9ORF72 expansion mutation is a common cause of ALS+/− FTD in Europe and has a single founder BN Smith, S Newhouse, A Shatunov, C Vance, S Topp, L Johnson, ... European Journal of Human Genetics 21 (1), 102-108, 2013 | 267 | 2013 |
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 238 | 2016 |
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis JE Landers, J Melki, V Meininger, JD Glass, LH van den Berg, MA van Es, ... Proceedings of the National Academy of Sciences 106 (22), 9004-9009, 2009 | 232 | 2009 |
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis MA Van Es, HJ Schelhaas, PWJ Van Vught, N Ticozzi, PM Andersen, ... Annals of neurology 70 (6), 964-973, 2011 | 221 | 2011 |
Enhanced translation: a novel mechanism of mdm2 oncogene overexpression identified in human tumor cells. JE Landers, DS Haines, JF Strauss 3rd, DL George Oncogene 9 (9), 2745-2750, 1994 | 206 | 1994 |
Physical and functional interaction between wild-type p53 and mdm2 proteins DS Haines, JE Landers, LJ Engle, DL George Molecular and cellular biology, 1994 | 206 | 1994 |
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis N Ticozzi, C Vance, AL Leclerc, P Keagle, JD Glass, D McKenna‐Yasek, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011 | 202 | 2011 |