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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: isaacs am. 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.
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
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S. Beck J, et al. Brain. 2008 Mar;131(Pt 3):706-20. doi: 10.1093/brain/awm320. Epub 2008 Jan 29. Brain. 2008. PMID: 18234697 Free PMC article.
The role of CHMP2B in frontotemporal dementia.
Urwin H, Ghazi-Noori S, Collinge J, Isaacs A. Urwin H, et al. Biochem Soc Trans. 2009 Feb;37(Pt 1):208-12. doi: 10.1042/BST0370208. Biochem Soc Trans. 2009. PMID: 19143633 Review.
146 results