|C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced†…|
R Dafinca, J Scaber, NAA Ababneh, T Lalic, G Weir, H Christian, J Vowles, ...
Stem cells 34 (8), 2063-2078, 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
|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
|TDP-43 expression in mouse models of amyotrophic lateral sclerosis and spinal muscular atrophy|
BJ Turner, D Bšumer, NJ Parkinson, J Scaber, O Ansorge, K Talbot
BMC neuroscience 9 (1), 1-11, 2008
|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
|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, … O’Moore
Euro Surveill 16 (5), 2011
|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
|Amyotrophic lateral sclerosis: the complex path to precision medicine|
K Talbot, E Feneberg, J Scaber, AG Thompson, MR Turner
Journal of neurology 265 (10), 2454-2462, 2018
|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
|CGAT-core: A python framework for building scalable, reproducible computational biology workflows|
AP Cribbs, S Luna-Valero, C George, IM Sudbery, AJ Berlanga-Taylor, ...
F1000Research 8 (377), 377, 2019
|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), 1-16, 2019
|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
|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
|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
|Motor Neuron Disease|
R Mutihac, N Ababneh, J Scaber, R Wade-Martins, S Cowley
Journal of the Neurological Sciences 357, e48-e50, 2015
|Two case reports of distal upper limb weakness following influenza-like illness: an emerging pattern of para-infectious myositis in adults|
J Scaber, AJ Molyneux, C Buckley, AJS Webb
BMC neurology 20 (1), 1-5, 2020
|Evaluation of next generation sequencing panels in adult-onset hereditary neurological disorders|
J Scaber, K Talbot, A Nemeth, G Tofaris
EUROPEAN JOURNAL OF NEUROLOGY 26, 334-334, 2019
|The pathophysiological role of TDP-43 in amyotrophic lateral sclerosis due to C9orf72 mutations|
University of Oxford, 2017
|Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS: P32096|
J Scaber, D Gordon, R Mutihac, J Alegre-Abarrategui, J Riancho, D Sims, ...
European Journal of Neurology 23, 2016
|Medical Sciences at a Glance: Practice Workbook|
J Scaber, F Rahman, P Abrahams
John Wiley & Sons, 2014