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Sarah Mizielinska
Sarah Mizielinska
Verified email at kcl.ac.uk
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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
7522014
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
3842013
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
3782012
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
2742015
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
1962007
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
1782013
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
1362018
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
1292007
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
1092012
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
982014
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
952015
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
742018
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
672015
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
582017
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
472015
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
412017
Rapid dendritic and axonal responses to neuronal insults
SM Mizielinska, SM Greenwood, H Tummala, CN Connolly
Biochemical Society Transactions 37 (6), 1389-1393, 2009
282009
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
282006
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
232021
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
212012
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