| TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis J Sreedharan, IP Blair, VB Tripathi, X Hu, C Vance, B Rogelj, S Ackerley, ... Science 319 (5870), 1668-1672, 2008 | 2307 | 2008 |
| Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 C Vance, B Rogelj, T Hortobágyi, KJ De Vos, AL Nishimura, J Sreedharan, ... Science 323 (5918), 1208-1211, 2009 | 2265 | 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 | 641 | 2015 |
| A yeast functional screen predicts new candidate ALS disease genes J Couthouis, MP Hart, J Shorter, M DeJesus-Hernandez, R Erion, ... Proceedings of the National Academy of Sciences 108 (52), 20881-20890, 2011 | 351 | 2011 |
| 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, 2016 | 306 | 2016 |
| 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 | 261 | 2014 |
| Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis J Couthouis, MP Hart, R Erion, OD King, Z Diaz, T Nakaya, F Ibrahim, ... Human molecular genetics 21 (13), 2899-2911, 2012 | 241 | 2012 |
| FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis IP Blair, KL Williams, ST Warraich, JC Durnall, AD Thoeng, J Manavis, ... Journal of Neurology, Neurosurgery & Psychiatry 81 (6), 639-645, 2010 | 228 | 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), 1268-1283. e6, 2018 | 214 | 2018 |
| Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration–motor neuron disease AA Luty, JBJ Kwok, C Dobson‐Stone, CT Loy, KG Coupland, H Karlström, ... Annals of neurology 68 (5), 639-649, 2010 | 182 | 2010 |
| NEK1 variants confer susceptibility to amyotrophic lateral sclerosis KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ... Nature genetics 48 (9), 1037, 2016 | 154 | 2016 |
| UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis KL Williams, ST Warraich, S Yang, JA Solski, R Fernando, GA Rouleau, ... Neurobiology of aging 33 (10), 2527. e3-2527. e10, 2012 | 152 | 2012 |
| Exome sequencing to identify de novo mutations in sporadic ALS trios A Chesi, BT Staahl, A Jovičić, J Couthouis, M Fasolino, AR Raphael, ... Nature neuroscience 16 (7), 851, 2013 | 132 | 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, 11253, 2016 | 127 | 2016 |
| ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19 Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo, ... The American Journal of Human Genetics 93 (5), 900-905, 2013 | 116 | 2013 |
| Pathophysiological insights into ALS with C9ORF72 expansions KL Williams, JA Fifita, S Vucic, JC Durnall, MC Kiernan, IP Blair, ... J Neurol Neurosurg Psychiatry 84 (8), 931-935, 2013 | 90 | 2013 |
| Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase MA Farg, KY Soo, AK Walker, H Pham, J Orian, MK Horne, ST Warraich, ... Neurobiology of aging 33 (12), 2855-2868, 2012 | 84 | 2012 |
| Arts syndrome is caused by loss-of-function mutations in PRPS1 APM de Brouwer, KL Williams, JA Duley, ABP van Kuilenburg, ... The American Journal of Human Genetics 81 (3), 507-518, 2007 | 77 | 2007 |
| Genetic correlation between amyotrophic lateral sclerosis and schizophrenia RL McLaughlin, D Schijven, W Van Rheenen, KR Van Eijk, M O’Brien, ... Nature communications 8, 14774, 2017 | 73 | 2017 |
| Defects in optineurin-and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis V Sundaramoorthy, AK Walker, V Tan, JA Fifita, EP Mccann, KL Williams, ... Human molecular genetics 24 (13), 3830-3846, 2015 | 57 | 2015 |
Garth NicholsonUniversity of sydneyVerified email at sydney.edu.au
