| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1302 | 2012 |
| Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations IRA Mackenzie, EH Bigio, PG Ince, F Geser, M Neumann, NJ Cairns, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 1159 | 2007 |
| Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis L Ferraiuolo, J Kirby, AJ Grierson, M Sendtner, PJ Shaw Nature Reviews Neurology 7 (11), 616-630, 2011 | 683 | 2011 |
| 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 | 579 | 2018 |
| Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 J Cooper-Knock, C Hewitt, JR Highley, A Brockington, A Milano, S Man, ... Brain 135 (3), 751-764, 2012 | 392 | 2012 |
| Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions J Cooper-Knock, MJ Walsh, A Higginbottom, J Robin Highley, ... Brain 137 (7), 2040-2051, 2014 | 348 | 2014 |
| Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) LE Cox, L Ferraiuolo, EF Goodall, PR Heath, A Higginbottom, H Mortiboys, ... PloS one 5 (3), e9872, 2010 | 297 | 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 | 255 | 2013 |
| Dysregulation of astrocyte–motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis L Ferraiuolo, A Higginbottom, PR Heath, S Barber, D Greenald, J Kirby, ... Brain 134 (9), 2627-2641, 2011 | 238 | 2011 |
| Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS L Ferraiuolo, PR Heath, H Holden, P Kasher, J Kirby, PJ Shaw Journal of Neuroscience 27 (34), 9201-9219, 2007 | 238 | 2007 |
| Gene expression profiling in human neurodegenerative disease J Cooper-Knock, J Kirby, L Ferraiuolo, PR Heath, M Rattray, PJ Shaw Nature Reviews Neurology 8 (9), 518-530, 2012 | 235 | 2012 |
| Neuronal dark matter: the emerging role of microRNAs in neurodegeneration EF Goodall, PR Heath, O Bandmann, J Kirby, PJ Shaw Frontiers in cellular neuroscience 7, 178, 2013 | 233 | 2013 |
| Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS J Kirby, E Halligan, MJ Baptista, S Allen, PR Heath, H Holden, SC Barber, ... Brain 128 (7), 1686-1706, 2005 | 223 | 2005 |
| The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype J Cooper-Knock, PJ Shaw, J Kirby Acta neuropathologica 127 (3), 333-345, 2014 | 208 | 2014 |
| Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy J Cooper-Knock, A Higginbottom, MJ Stopford, JR Highley, PG Ince, ... Acta neuropathologica 130 (1), 63-75, 2015 | 195 | 2015 |
| Loss of nuclear TDP‐43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones JR Highley, J Kirby, JA Jansweijer, PS Webb, CA Hewamadduma, ... Neuropathology and applied neurobiology 40 (6), 670-685, 2014 | 192 | 2014 |
| C9ORF72 GGGGCC expanded repeats produce splicing dysregulation which correlates with disease severity in amyotrophic lateral sclerosis J Cooper-Knock, JJ Bury, PR Heath, M Wyles, A Higginbottom, ... PloS one 10 (5), e0127376, 2015 | 181 | 2015 |
| Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology PG Ince, JR Highley, J Kirby, SB Wharton, H Takahashi, MJ Strong, ... Acta neuropathologica 122 (6), 657-671, 2011 | 172 | 2011 |
| Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and … A Brockington, K Ning, PR Heath, E Wood, J Kirby, N Fusi, N Lawrence, ... Acta neuropathologica 125 (1), 95-109, 2013 | 171 | 2013 |
| Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis C Hewitt, J Kirby, JR Highley, JA Hartley, R Hibberd, HC Hollinger, ... Archives of neurology 67 (4), 455-461, 2010 | 166 | 2010 |
