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A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.
Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H. Kara E, et al. Among authors: holton jl. JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994. JAMA Neurol. 2014. PMID: 25003242 Free PMC article.
Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations.
Houlden H, Baker M, McGowan E, Lewis P, Hutton M, Crook R, Wood NW, Kumar-Singh S, Geddes J, Swash M, Scaravilli F, Holton JL, Lashley T, Tomita T, Hashimoto T, Verkkoniemi A, Kalimo H, Somer M, Paetau A, Martin JJ, Van Broeckhoven C, Golde T, Hardy J, Haltia M, Revesz T. Houlden H, et al. Among authors: holton jl. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548
Sporadic and familial cerebral amyloid angiopathies.
Revesz T, Holton JL, Lashley T, Plant G, Rostagno A, Ghiso J, Frangione B. Revesz T, et al. Among authors: holton jl. Brain Pathol. 2002 Jul;12(3):343-57. doi: 10.1111/j.1750-3639.2002.tb00449.x. Brain Pathol. 2002. PMID: 12146803 Free PMC article. Review.
Neurofilament inclusion body disease: a new proteinopathy?
Josephs KA, Holton JL, Rossor MN, Braendgaard H, Ozawa T, Fox NC, Petersen RC, Pearl GS, Ganguly M, Rosa P, Laursen H, Parisi JE, Waldemar G, Quinn NP, Dickson DW, Revesz T. Josephs KA, et al. Among authors: holton jl. Brain. 2003 Oct;126(Pt 10):2291-303. doi: 10.1093/brain/awg231. Epub 2003 Jul 22. Brain. 2003. PMID: 12876145
366 results