| C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins S Mizielinska, S Grönke, T Niccoli, CE Ridler, EL Clayton, A Devoy, ... Science 345 (6201), 1192-1194, 2014 | 827 | 2014 |
| 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 | 670 | 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 | 635 | 2016 |
| Neurofilament light chain: a prognostic biomarker in amyotrophic lateral sclerosis CH Lu, C Macdonald-Wallis, E Gray, N Pearce, A Petzold, N Norgren, ... Neurology 84 (22), 2247-2257, 2015 | 574 | 2015 |
| Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ... Nature neuroscience 17 (5), 664-666, 2014 | 554 | 2014 |
| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 504 | 2019 |
| Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population J Beck, M Poulter, D Hensman, JD Rohrer, CJ Mahoney, G Adamson, ... The American Journal of Human Genetics 92 (3), 345-353, 2013 | 443 | 2013 |
| Is SOD1 loss of function involved in amyotrophic lateral sclerosis? RA Saccon, RKA Bunton-Stasyshyn, EMC Fisher, P Fratta Brain 136 (8), 2342-2358, 2013 | 430 | 2013 |
| C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci S Mizielinska, T Lashley, FE Norona, EL Clayton, CE Ridler, P Fratta, ... Acta neuropathologica 126, 845-857, 2013 | 422 | 2013 |
| C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes P Fratta, S Mizielinska, AJ Nicoll, M Zloh, EMC Fisher, G Parkinson, ... Scientific reports 2 (1), 1016, 2012 | 419 | 2012 |
| TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello, WC Lee, ... Nature 603 (7899), 131-137, 2022 | 314 | 2022 |
| C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis JD Rohrer, AM Isaacs, S Mizielinska, S Mead, T Lashley, S Wray, K Sidle, ... The Lancet Neurology 14 (3), 291-301, 2015 | 298 | 2015 |
| Postmortem cortex samples identify distinct molecular subtypes of ALS: retrotransposon activation, oxidative stress, and activated glia OH Tam, NV Rozhkov, R Shaw, D Kim, I Hubbard, S Fennessey, N Propp, ... Cell reports 29 (5), 1164-1177. e5, 2019 | 272 | 2019 |
| The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia YA Abramzon, P Fratta, BJ Traynor, R Chia Frontiers in neuroscience 14, 42, 2020 | 257 | 2020 |
| G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome R Simone, P Fratta, S Neidle, GN Parkinson, AM Isaacs FEBS letters 589 (14), 1653-1668, 2015 | 247 | 2015 |
| 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 | 234 | 2010 |
| SOD1 function and its implications for amyotrophic lateral sclerosis pathology: new and renascent themes RKA Bunton-Stasyshyn, RA Saccon, P Fratta, EMC Fisher The Neuroscientist 21 (5), 519-529, 2015 | 231 | 2015 |
| G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo R Simone, R Balendra, TG Moens, E Preza, KM Wilson, A Heslegrave, ... EMBO molecular medicine 10 (1), 22-31, 2018 | 227 | 2018 |
| Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia P Fratta, M Poulter, T Lashley, JD Rohrer, JM Polke, J Beck, N Ryan, ... Acta neuropathologica 126, 401-409, 2013 | 185 | 2013 |
| The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients Z Xi, M Zhang, AC Bruni, RG Maletta, R Colao, P Fratta, JM Polke, ... Acta neuropathologica 129 (5), 715-727, 2015 | 182 | 2015 |
Elizabeth FisherUniversity College London, Institute of NeurologyVerified email at ucl.ac.uk
