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Johnathan Cooper-Knock
Johnathan Cooper-Knock
Clinical Fellow, University of Sheffield
Verified email at sheffield.ac.uk
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Cited by
Cited by
Year
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
5702018
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
3882012
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
3442014
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
2662021
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
2642022
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
2342012
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
2072014
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
2002014
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
1932015
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
1792015
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
1672020
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
1602019
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
1402017
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
1402014
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
1302017
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
812021
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
802021
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
802013
Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
VL Buchman, J Cooper-Knock, N Connor-Robson, A Higginbottom, ...
Molecular neurodegeneration 8, 1-6, 2013
792013
Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration
T Moll, PJ Shaw, J Cooper-Knock
Brain 143 (5), 1332-1340, 2020
712020
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