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| 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 | 2964 | 2009 |
| 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 | 576 | 2018 |
| Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic YB Lee, HJ Chen, JN Peres, J Gomez-Deza, J Attig, M Štalekar, ... Cell reports 5 (5), 1178-1186, 2013 | 545 | 2013 |
| Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis NJ Rutherford, YJ Zhang, M Baker, JM Gass, NCA Finch, YF Xu, ... PLoS genetics 4 (9), e1000193, 2008 | 529 | 2008 |
| Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2–21.3 C Vance, A Al-Chalabi, D Ruddy, BN Smith, X Hu, J Sreedharan, ... Brain 129 (4), 868-876, 2006 | 495 | 2006 |
| 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 | 411 | 2014 |
| Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species EL Scotter, C Vance, AL Nishimura, YB Lee, HJ Chen, H Urwin, ... Journal of cell science 127 (6), 1263-1278, 2014 | 323 | 2014 |
| Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age-and dose-dependent fashion JC Mitchell, P McGoldrick, C Vance, T Hortobagyi, J Sreedharan, B Rogelj, ... Acta neuropathologica 125, 273-288, 2013 | 313 | 2013 |
| Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase J Mitchell, P Paul, HJ Chen, A Morris, M Payling, M Falchi, J Habgood, ... Proceedings of the National Academy of Sciences 107 (16), 7556-7561, 2010 | 298 | 2010 |
| NEK1 variants confer susceptibility to amyotrophic lateral sclerosis KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi, BJ Kenna, ... Nature genetics 48 (9), 1037-1042, 2016 | 282 | 2016 |
| ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules C Vance, EL Scotter, AL Nishimura, C Troakes, JC Mitchell, C Kathe, ... Human molecular genetics 22 (13), 2676-2688, 2013 | 275 | 2013 |
| 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 | 270 | 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 | 254 | 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 | 218 | 2016 |
| 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 | 196 | 2011 |
| The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis HJ Chen, JC Mitchell, S Novoselov, J Miller, AL Nishimura, EL Scotter, ... Brain 139 (5), 1417-1432, 2016 | 169 | 2016 |
| An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62‐positive, TDP‐43‐negative inclusions in cerebral cortex, hippocampus and … C Troakes, S Maekawa, L Wijesekera, B Rogelj, L Siklós, C Bell, B Smith, ... Neuropathology 32 (5), 505-514, 2012 | 150 | 2012 |
| Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis BN Smith, SD Topp, C Fallini, H Shibata, HJ Chen, C Troakes, A King, ... Science translational medicine 9 (388), eaad9157, 2017 | 148 | 2017 |
| A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis I Fogh, A Ratti, C Gellera, K Lin, C Tiloca, V Moskvina, L Corrado, ... Human molecular genetics 23 (8), 2220-2231, 2014 | 138 | 2014 |
Christopher E ShawInstitute of Psychiatry, King's College LondonVerified email at kcl.ac.uk
