| 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 | 3011 | 2009 |
| Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 JR Tollervey, T Curk, B Rogelj, M Briese, M Cereda, M Kayikci, J König, ... Nature neuroscience 14 (4), 452-458, 2011 | 1228 | 2011 |
| A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ... The American Journal of Human Genetics 75 (5), 822-831, 2004 | 1200 | 2004 |
| 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 | 556 | 2013 |
| Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability B Bilican, A Serio, SJ Barmada, AL Nishimura, GJ Sullivan, M Carrasco, ... Proceedings of the National Academy of Sciences 109 (15), 5803-5808, 2012 | 410 | 2012 |
| Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy A Serio, B Bilican, SJ Barmada, DM Ando, C Zhao, R Siller, K Burr, ... Proceedings of the National Academy of Sciences 110 (12), 4697-4702, 2013 | 400 | 2013 |
| 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 | 331 | 2014 |
| FUS-SMN protein interactions link the motor neuron diseases ALS and SMA T Yamazaki, S Chen, Y Yu, B Yan, TC Haertlein, MA Carrasco, JC Tapia, ... Cell reports 2 (4), 799-806, 2012 | 291 | 2012 |
| 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 | 289 | 2013 |
| Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration AL Nishimura, V Župunski, C Troakes, C Kathe, P Fratta, M Howell, ... Brain 133 (6), 1763-1771, 2010 | 223 | 2010 |
| C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity BT Selvaraj, MR Livesey, C Zhao, JM Gregory, OT James, EM Cleary, ... Nature communications 9 (1), 347, 2018 | 199 | 2018 |
| 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 | 174 | 2016 |
| Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations Z Zhang, S Almeida, Y Lu, AL Nishimura, L Peng, D Sun, B Wu, ... PloS one 8 (10), e76055, 2013 | 165 | 2013 |
| Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysis N Fukumoto, T Fujii, O Combarros, MI Kamboh, SJ Tsai, S Matsushita, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 148 | 2010 |
| Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene JS Schwartzman, A Bernardino, A Nishimura, RR Gomes, M Zatz Neuropediatrics 32 (03), 162-164, 2001 | 125 | 2001 |
| A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population AL Nishimura, A Al-Chalabi, M Zatz Human genetics 118, 499-500, 2005 | 123 | 2005 |
| A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 AL Nishimura, M Mitne-Neto, HCA Silva, JRM Oliveira, M Vainzof, M Zatz Journal of medical genetics 41 (4), 315-320, 2004 | 115 | 2004 |
| Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders T Hortobágyi, C Troakes, AL Nishimura, C Vance, JC van Swieten, ... Acta neuropathologica 121, 519-527, 2011 | 100 | 2011 |
| C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity YB Lee, P Baskaran, J Gomez-Deza, HJ Chen, AL Nishimura, BN Smith, ... Human molecular genetics 26 (24), 4765-4777, 2017 | 94 | 2017 |
| ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function M de Majo, SD Topp, BN Smith, AL Nishimura, HJ Chen, AS Gkazi, ... Neurobiology of aging 71, 266. e1-266. e10, 2018 | 79 | 2018 |
