C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins S Mizielinska, S Grönke, T Niccoli, CE Ridler, EL Clayton, A Devoy, ... Science 345 (6201), 1192-1194, 2014 | 757 | 2014 |
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci S Mizielinska, T Lashley, FE Norona, EL Clayton, CE Ridler, P Fratta, ... Acta neuropathologica 126, 845-857, 2013 | 385 | 2013 |
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes P Fratta, S Mizielinska, AJ Nicoll, M Zloh, EMC Fisher, G Parkinson, ... Scientific reports 2 (1), 1016, 2012 | 378 | 2012 |
C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis JD Rohrer, AM Isaacs, S Mizielinska, S Mead, T Lashley, S Wray, K Sidle, ... The Lancet Neurology 14 (3), 291-301, 2015 | 274 | 2015 |
Leptin promotes rapid dynamic changes in hippocampal dendritic morphology D O’Malley, N MacDonald, S Mizielinska, CN Connolly, AJ Irving, ... Molecular and Cellular Neuroscience 35 (4), 559-572, 2007 | 195 | 2007 |
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia P Fratta, M Poulter, T Lashley, JD Rohrer, JM Polke, J Beck, N Ryan, ... Acta neuropathologica 126, 401-409, 2013 | 178 | 2013 |
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism B Swinnen, A Bento-Abreu, TF Gendron, S Boeynaems, E Bogaert, ... Acta neuropathologica 135, 427-443, 2018 | 137 | 2018 |
Mitochondrial dysfunction and dendritic beading during neuronal toxicity SM Greenwood, SM Mizielinska, BG Frenguelli, J Harvey, CN Connolly Journal of Biological Chemistry 282 (36), 26235-26244, 2007 | 129 | 2007 |
Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice S Ghazi-Noori, KE Froud, S Mizielinska, C Powell, M Smidak, ... Brain 135 (3), 819-832, 2012 | 109 | 2012 |
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? S Mizielinska, AM Isaacs Current opinion in neurology 27 (5), 515-523, 2014 | 98 | 2014 |
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology EL Clayton, S Mizielinska, JR Edgar, TT Nielsen, S Marshall, FE Norona, ... Acta neuropathologica 130, 511-523, 2015 | 95 | 2015 |
Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD TG Moens, S Mizielinska, T Niccoli, JS Mitchell, A Thoeng, CE Ridler, ... Acta neuropathologica 135, 445-457, 2018 | 74 | 2018 |
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion P Fratta, JM Polke, J Newcombe, S Mizielinska, T Lashley, M Poulter, ... Neurobiology of aging 36 (1), 546. e1-546. e7, 2015 | 67 | 2015 |
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration S Mizielinska, CE Ridler, R Balendra, A Thoeng, NS Woodling, ... Acta neuropathologica communications 5, 1-11, 2017 | 58 | 2017 |
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and … P Gami, C Murray, L Schottlaender, C Bettencourt, E De Pablo Fernandez, ... Acta neuropathologica 130, 599-601, 2015 | 47 | 2015 |
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation EL Clayton, R Mancuso, TT Nielsen, S Mizielinska, H Holmes, N Powell, ... Human molecular genetics 26 (5), 873-887, 2017 | 41 | 2017 |
Rapid dendritic and axonal responses to neuronal insults SM Mizielinska, SM Greenwood, H Tummala, CN Connolly Biochemical Society Transactions 37 (6), 1389-1393, 2009 | 28 | 2009 |
The role of GABAA receptor biogenesis, structure and function in epilepsy S Mizielinska, S Greenwood, CN Connolly Biochemical Society Transactions 34 (5), 863-867, 2006 | 28 | 2006 |
Altered Phase Separation and Cellular Impact in C9orf72-Linked ALS/FTD DA Solomon, R Smikle, MJ Reid, S Mizielinska Frontiers in cellular neuroscience 15, 664151, 2021 | 23 | 2021 |
Reversal of pathology in CHMP2B‐mediated frontotemporal dementia patient cells using RNA interference TT Nielsen, S Mizielinska, L Hasholt, AM Isaacs, JE Nielsen, ... The journal of gene medicine 14 (8), 521-529, 2012 | 21 | 2012 |