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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. Among authors: fisher em. 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.
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).
Rostgaard N, Roos P, Budtz-Jørgensen E, Johannsen P, Waldemar G, Nørremølle A, Lindquist SG, Gydesen S, Brown JM, Collinge J, Isaacs AM; FReJA collaboration; Nielsen TT, Nielsen JE. Rostgaard N, et al. Neurobiol Aging. 2017 Nov;59:221.e1-221.e7. doi: 10.1016/j.neurobiolaging.2017.06.026. Epub 2017 Jul 11. Neurobiol Aging. 2017. PMID: 28888721
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Humphrey J, et al. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. Nucleic Acids Res. 2020. PMID: 32479602 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. Acta Neurol Scand. 2022 May;145(5):529-540. doi: 10.1111/ane.13578. Epub 2022 Jan 8. Acta Neurol Scand. 2022. PMID: 34997757
Opinion: more mouse models and more translation needed for ALS.
Fisher EMC, Greensmith L, Malaspina A, Fratta P, Hanna MG, Schiavo G, Isaacs AM, Orrell RW, Cunningham TJ, Arozena AA. Fisher EMC, et al. Mol Neurodegener. 2023 May 4;18(1):30. doi: 10.1186/s13024-023-00619-2. Mol Neurodegener. 2023. PMID: 37143081 Free PMC article. Review.
Towards a mutant map of the mouse--new models of neurological, behavioural, deafness, bone, renal and blood disorders.
Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A, Tsai H, Strivens M, Washbourne R, Thornton C, Greenaway S, Hewitt M, McCormick S, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Mburu P, Rogers D, Hagan J, Reavill C, Davies K, Glenister P, Fisher EM, Martin J, Vizor L, Bouzyk M, Kelsell D, Guenet JL, Steel KP, Sheardown S, Spurr N, Gray I, Peters J, Nolan PM, Hunter AJ, Brown SD. Rastan S, et al. Among authors: fisher em. Genetica. 2004 Sep;122(1):47-9. doi: 10.1007/s10709-004-1930-x. Genetica. 2004. PMID: 15619960
311 results