| 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 | 599 | 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 | 398 | 2012 |
| Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS TM Miller, ME Cudkowicz, A Genge, PJ Shaw, G Sobue, RC Bucelli, ... New England Journal of Medicine 387 (12), 1099-1110, 2022 | 366 | 2022 |
| 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 | 356 | 2014 |
| 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 | 306 | 2021 |
| 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 | 238 | 2012 |
| 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, 333-345, 2014 | 211 | 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, 63-75, 2015 | 201 | 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 | 201 | 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 | 185 | 2015 |
| Spatiotemporal proteomic analysis of stress granule disassembly using APEX reveals regulation by SUMOylation and links to ALS pathogenesis H Marmor-Kollet, A Siany, N Kedersha, N Knafo, N Rivkin, YM Danino, ... Molecular cell 80 (5), 876-891. e6, 2020 | 184 | 2020 |
| Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology 85 (4), 470-481, 2019 | 166 | 2019 |
| Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS) R Waller, EF Goodall, M Milo, J Cooper-Knock, M Da Costa, E Hobson, ... Neurobiology of aging 55, 123-131, 2017 | 148 | 2017 |
| TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions MD Gallagher, E Suh, M Grossman, L Elman, L McCluskey, ... Acta neuropathologica 127, 407-418, 2014 | 147 | 2014 |
| SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits GM Hautbergue, LM Castelli, L Ferraiuolo, A Sanchez-Martinez, ... Nature communications 8 (1), 16063, 2017 | 140 | 2017 |
| Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes TH Julian, N Glascow, ADF Barry, T Moll, C Harvey, YC Klimentidis, ... EBioMedicine 68, 2021 | 97 | 2021 |
| Value of systematic genetic screening of patients with amyotrophic lateral sclerosis SR Shepheard, MD Parker, J Cooper-Knock, NS Verber, L Tuddenham, ... Journal of Neurology, Neurosurgery & Psychiatry 92 (5), 510-518, 2021 | 87 | 2021 |
| Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll, JNG Marshall, ... Neuron 110 (6), 992-1008. e11, 2022 | 83 | 2022 |
| The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS) SL Boddy, I Giovannelli, M Sassani, J Cooper-Knock, MP Snyder, E Segal, ... BMC medicine 19, 1-14, 2021 | 81 | 2021 |
| Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72 A Ismail, J Cooper-Knock, JR Highley, A Milano, J Kirby, E Goodall, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (1), 79-87, 2013 | 80 | 2013 |
Pamela J ShawProfessor of Neurology, University of Sheffield在 sheffield.ac.uk 的电子邮件经过验证
