| 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 | 3140 | 2009 |
| 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 | 3133 | 2008 |
| DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4) YZ Chen, CL Bennett, HM Huynh, IP Blair, I Puls, J Irobi, I Dierick, A Abel, ... The American Journal of Human Genetics 74 (6), 1128-1135, 2004 | 1049 | 2004 |
| 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 | 672 | 2018 |
| Controversies and priorities in amyotrophic lateral sclerosis MR Turner, O Hardiman, M Benatar, BR Brooks, A Chio, M De Carvalho, ... The Lancet Neurology 12 (3), 310-322, 2013 | 654 | 2013 |
| 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 | 637 | 2016 |
| Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis S Vucic, GA Nicholson, MC Kiernan Brain 131 (6), 1540-1550, 2008 | 527 | 2008 |
| Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I JL Dawkins, DJ Hulme, SB Brahmbhatt, M Auer-Grumbach, GA Nicholson Nature genetics 27 (3), 309-312, 2001 | 511 | 2001 |
| Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss CJ Klein, MV Botuyan, Y Wu, CJ Ward, GA Nicholson, S Hammans, ... Nature genetics 43 (6), 595-600, 2011 | 464 | 2011 |
| 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 | 463 | 2011 |
| 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 | 448 | 2014 |
| Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease S Züchner, M Noureddine, M Kennerson, K Verhoeven, K Claeys, ... Nature genetics 37 (3), 289-294, 2005 | 425 | 2005 |
| Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids A Penno, MM Reilly, H Houlden, M Laurá, K Rentsch, V Niederkofler, ... Journal of biological chemistry 285 (15), 11178-11187, 2010 | 418 | 2010 |
| 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 | 410 | 2021 |
| The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A LJ Valentijn, PA Bolhuis, I Zorn, JE Hoogendijk, N Van den Bosch, ... Nature genetics 1 (3), 166-170, 1992 | 386 | 1992 |
| Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr α‐synuclein mutation PJ Spira, DM Sharpe, G Halliday, J Cavanagh, GA Nicholson Annals of neurology 49 (3), 313-319, 2001 | 363 | 2001 |
| 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 | 317 | 2012 |
| 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 | 312 | 2016 |
| 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 | 302 | 2010 |
| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies GA Nicholson, LJ Valentijn, AK Cherryson, ML Kennerson, TL Bragg, ... Nature genetics 6 (3), 263-266, 1994 | 285 | 1994 |
