C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced … R Dafinca, J Scaber, N Ababneh, T Lalic, G Weir, H Christian, J Vowles, ... Stem cells 34 (8), 2063-2078, 2016 | 251 | 2016 |
C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia Y Aoki, R Manzano, Y Lee, R Dafinca, M Aoki, AGL Douglas, MA Varela, ... Brain 140 (4), 887-897, 2017 | 178 | 2017 |
The diagnostic pathway and prognosis in bulbar-onset amyotrophic lateral sclerosis MR Turner, J Scaber, JA Goodfellow, ME Lord, R Marsden, K Talbot Journal of the neurological sciences 294 (1-2), 81-85, 2010 | 131 | 2010 |
Impairment of mitochondrial calcium buffering links mutations in C9ORF72 and TARDBP in iPS-derived motor neurons from patients with ALS/FTD R Dafinca, P Barbagallo, L Farrimond, A Candalija, J Scaber, AA Nida'a, ... Stem Cell Reports 14 (5), 892-908, 2020 | 108 | 2020 |
Pattern of spread and prognosis in lower limb-onset ALS MR Turner, A Brockington, J Scaber, H Hollinger, R Marsden, PJ Shaw, ... Amyotrophic Lateral Sclerosis 11 (4), 369-373, 2010 | 84 | 2010 |
TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy BJ Turner, D Bäumer, NJ Parkinson, J Scaber, O Ansorge, K Talbot BMC neuroscience 9, 1-11, 2008 | 77 | 2008 |
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor … D Gordon, R Dafinca, J Scaber, J Alegre-Abarrategui, L Farrimond, ... Neurobiology of disease 121, 148-162, 2019 | 67 | 2019 |
Group A streptococcal infections during the seasonal influenza outbreak 2010/11 in South East England J Scaber, S Saeed, C Ihekweazu, A Efstratiou, N McCarthy, É O’Moore Euro Surveill 16 (5), 2011 | 62 | 2011 |
Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation E Giacomelli, BF Vahsen, EL Calder, Y Xu, J Scaber, E Gray, R Dafinca, ... Cell Stem Cell 29 (1), 11-35, 2022 | 55 | 2022 |
Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by … NA Ababneh, J Scaber, R Flynn, A Douglas, P Barbagallo, A Candalija, ... Human molecular genetics 29 (13), 2200-2217, 2020 | 52 | 2020 |
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain AG Thompson, E Gray, N Verber, Y Bobeva, V Lombardi, SR Shepheard, ... Brain communications 4 (1), fcac029, 2022 | 44 | 2022 |
Amyotrophic lateral sclerosis: the complex path to precision medicine K Talbot, E Feneberg, J Scaber, AG Thompson, MR Turner Journal of neurology 265, 2454-2462, 2018 | 42 | 2018 |
Embryonic progenitor pools generate diversity in fine-scale excitatory cortical subnetworks TJ Ellender, SV Avery, K Mahfooz, J Scaber, A von Klemperer, SL Nixon, ... Nature Communications 10 (1), 5224, 2019 | 33 | 2019 |
CGAT-core: a python framework for building scalable, reproducible computational biology workflows AP Cribbs, S Luna-Valero, C George, IM Sudbery, AJ Berlanga-Taylor, ... bioRxiv, 581009, 2019 | 33 | 2019 |
Genetic testing in motor neurone disease T Dharmadasa, J Scaber, E Edmond, R Marsden, A Thompson, K Talbot, ... Practical Neurology 22 (2), 107-116, 2022 | 27 | 2022 |
Initial identification of a blood-based chromosome conformation signature for aiding in the diagnosis of amyotrophic lateral sclerosis M Salter, E Corfield, A Ramadass, F Grand, J Green, J Westra, CR Lim, ... EBioMedicine 33, 169-184, 2018 | 22 | 2018 |
Human iPSC co-culture model to investigate the interaction between microglia and motor neurons BF Vahsen, E Gray, A Candalija, KML Cramb, J Scaber, R Dafinca, ... Scientific Reports 12 (1), 12606, 2022 | 12 | 2022 |
What is the role of TDP-43 in C9orf72-related amyotrophic lateral sclerosis and frontemporal dementia? J Scaber, K Talbot Brain 139 (12), 3057-3059, 2016 | 12 | 2016 |
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9 BF Vahsen, S Nalluru, GR Morgan, L Farrimond, E Carroll, Y Xu, ... Nature Communications 14 (1), 5898, 2023 | 10 | 2023 |
Modelling amyotrophic lateral sclerosis (ALS) using mutant and CAS9/CRISPR-corrected motor neurons from patients with C9ORF72 mutations reveals disease-specific cellular phenotypes R Mutihac, N Ababneh, J Scaber, R Wade-Martins, S Cowley, K Talbot Journal of the Neurological Sciences 357, e48, 2015 | 6 | 2015 |