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Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. Gregory A, et al. Among authors: holm ie. Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17. Neurology. 2008. PMID: 18799783 Free PMC article.
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease.
Brickell KL, Leverenz JB, Steinbart EJ, Rumbaugh M, Schellenberg GD, Nochlin D, Lampe TH, Holm IE, Van Deerlin V, Yuan W, Bird TD. Brickell KL, et al. Among authors: holm ie. J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1050-5. doi: 10.1136/jnnp.2006.113803. Epub 2007 Jul 5. J Neurol Neurosurg Psychiatry. 2007. PMID: 17615170 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.
Cortical Frontoparietal Network Dysfunction in CHMP2B-Frontotemporal Dementia.
Musaeus CS, Pedersen JS, Kjær TW, Johannsen P, Waldemar G, Haverberg MJN, Bacher T, Nielsen JE, Roos P; FReJA Consortium. Musaeus CS, et al. Front Aging Neurosci. 2021 Sep 13;13:714220. doi: 10.3389/fnagi.2021.714220. eCollection 2021. Front Aging Neurosci. 2021. PMID: 34588974 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. 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.
80 results