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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 IE, Johannsen P, Nielsen JE, Asante EA, Collinge J; FReJA consortium; Isaacs AM. Clayton EL, et al. Among authors: norona fe. Acta Neuropathol. 2015 Oct;130(4):511-23. doi: 10.1007/s00401-015-1475-3. Epub 2015 Sep 10. Acta Neuropathol. 2015. PMID: 26358247 Free PMC article.
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. Clayton EL, et al. Hum Mol Genet. 2017 Mar 1;26(5):873-887. doi: 10.1093/hmg/ddx003. Hum Mol Genet. 2017. PMID: 28093491 Free PMC article.
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IOC, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EMC, Partridge L, Isaacs AM. Mizielinska S, et al. Among authors: norona fe. Science. 2014 Sep 5;345(6201):1192-1194. doi: 10.1126/science.1256800. Epub 2014 Aug 7. Science. 2014. PMID: 25103406 Free PMC article.