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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: holm ie. 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.
Frontotemporal dementia caused by CHMP2B mutations.
Isaacs AM, Johannsen P, Holm I, Nielsen JE; FReJA consortium. Isaacs AM, et al. Curr Alzheimer Res. 2011 May;8(3):246-51. doi: 10.2174/156720511795563764. Curr Alzheimer Res. 2011. PMID: 21222599 Free PMC article. Review.
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M; FReJA Consortium; Van Broeckhoven C, Collinge J, Brandner S, Futter C, Isaacs AM. Urwin H, et al. Hum Mol Genet. 2010 Jun 1;19(11):2228-38. doi: 10.1093/hmg/ddq100. Epub 2010 Mar 10. Hum Mol Genet. 2010. PMID: 20223751 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.
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium; Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. Urwin H, et al. Among authors: holm ie. Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20. Acta Neuropathol. 2010. PMID: 20490813 Free PMC article.
Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival.
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM; Frontotemporal dementia Research in Jutland Association (FReJA) consortium; Nielsen JE. Roos P, et al. Among authors: holm ie. Acta Neurol Scand. 2022 May;145(5):529-540. doi: 10.1111/ane.13578. Epub 2022 Jan 8. Acta Neurol Scand. 2022. PMID: 34997757
81 results