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Sarah Mizielinksa Group


Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.
Mizielinska S*, Ridler CE*, Balendra R*, Thoeng A, Woodling NS, Grässer FA, Plagnol V, Lashley T, Partridge L, Isaacs AM.
Acta Neuropathol Commun. 2017 Apr 18;5(1):29. 


Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Clayton EL, Mancuso R, Nielsen TT, Mizielinska S, Holmes H, Powell N, Norona F, Larsen JO, Milioto C, Wilson KM, Lythgoe MF, Ourselin S, Nielsen JE, Johannsen P, Holm I, Collinge J; FReJA, Oliver PL, Gomez-Nicola D, Isaacs AM.
Hum Mol Genet. 2017 Mar 1;26(5):873-887. 


One target for amyotrophic lateral sclerosis therapy?
Mizielinska S, Isaacs AM.
Science. 2016 Aug 12;353(6300):647-8.


Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology
Clayton EL*, Mizielinska S*, Edgar JR, Nielsen TT , Marshall S, Norona FE, Robbins M, Damirji H, Holm I, Johannsen P, Nielsen JE, Asante EA, Collinge J, the FReJA consortium, Isaacs AM
Acta Neuropathol. 2015 Oct; 130(4):511-23


A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptiderepeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
Gami P, Murray C, Schottlaender L, Bettencourt C, De Pablo Fernandez E, Mudanohwo E, Mizielinska S, Polke JM, Holton JL, Isaacs AM, Houlden H, Revesz T, Lashley T
Acta Neuropathol. 2015 Sep 7. 


C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Rohrer JD, Isaacs AM, Mizielinska S, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD
Lancet Neurology. 2015; 14(3):291-301


Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM
Neurobiol Aging. 2015; 36(1):546.e1-7


C9orf72 repeat expansions cause neurodegeneration through arginine-rich proteins
Mizielinska S*, Grönke S*, Niccoli T*, Ridler CE, Clayton E, Deovy A, Norona FE, Woollacott IOC, Pietrzyk J, Cleverley K, Nicoll AJ, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EMC, Partridge L, Isaacs AM
Science. 2014 Sept; 345(6201):1192-4


C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Mizielinska S, Isaacs AM.
Curr Opin Neurol. 2014 Oct; 27(5):515-23  


C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM
Acta Neuropathol. 2013 Oct; 126(6):845-57


Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM, Mead S
Acta Neuropathol. 2013;126(3):401-9 


C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. 
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EMC, Parkinson G, Isaacs AM
Scientific Reports 2012 Dec; 2:1016


Reversal of Pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE; FReJA Consortium
J Gene Med 2012; 14(8):521-9


Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J, Isaacs AM
Brain 2012; 135(3):819-32


Rapid dendritic and axonal responses to neuronal insults
Mizielinska SM, Tummula H, Greenwood SM, Connolly CN 
Biochem Soc Trans 2009; 37(6):1389-93


Ion channels in epilepsy 
Mizielinska SM 
Biochem Soc Trans
2007; 35(5):1077-9


Leptin promotes rapid dynamic changes in hippocampal dendritic morphology
O'Malley D, MacDonald N, Mizielinska S, Connolly CN, Irving AJ, Harvey J 
Mol Cell Neurosci 2007; 35(4):559-72


Mitochondrial dysfunction and dendritic beading during neuronal toxicity 
Greenwood SM, Mizielinska SM, Frenguelli BG, Harvey J, Connolly CN 
JBC 2007; 282(36):26235-44


The role of GABAA receptor biogenesis, structure and function in epilepsy
Mizielinska S, Greenwood S, Connolly CN 
Biochem Soc Trans 2006; 34(5):863-7


*These authors contributed equally to this publication

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