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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. Genetica. 2004 Sep;122(1):47-9. doi: 10.1007/s10709-004-1930-x. Genetica. 2004. PMID: 15619960
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM, Van Broeckhoven C. van der Zee J, et al. Among authors: isaacs am. Hum Mol Genet. 2008 Jan 15;17(2):313-22. doi: 10.1093/hmg/ddm309. Epub 2007 Oct 22. Hum Mol Genet. 2008. PMID: 17956895
The heritability and genetics of frontotemporal lobar degeneration.
Rohrer JD, Guerreiro R, Vandrovcova J, Uphill J, Reiman D, Beck J, Isaacs AM, Authier A, Ferrari R, Fox NC, Mackenzie IR, Warren JD, de Silva R, Holton J, Revesz T, Hardy J, Mead S, Rossor MN. Rohrer JD, et al. Among authors: isaacs am. Neurology. 2009 Nov 3;73(18):1451-6. doi: 10.1212/WNL.0b013e3181bf997a. Neurology. 2009. PMID: 19884572 Free PMC article.
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: isaacs am. 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.
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: isaacs am. 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.
145 results