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Neuronal intranuclear inclusion disease is genetically heterogeneous.
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, Lashley T, DeTure M, Dickson DW, Josephs KA, Gelpi E, Kovacs GG, Halliday G, Rowe DB, Blair I, Tienari PJ, Suomalainen A, Fox NC, Wood NW, Lees AJ, Haltia MJ; Genomics England Research Consortium; Hardy J, Ryten M, Vandrovcova J, Houlden H. Chen Z, et al. Among authors: haltia mj. Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. doi: 10.1002/acn3.51151. Epub 2020 Aug 10. Ann Clin Transl Neurol. 2020. PMID: 32777174 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. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548
Finnish neuroscience from past to present.
Korpi ER, Lindholm D, Panula P, Tienari PJ, Haltia M. Korpi ER, et al. Eur J Neurosci. 2020 Sep;52(5):3273-3289. doi: 10.1111/ejn.14693. Epub 2020 Feb 18. Eur J Neurosci. 2020. PMID: 32017266 No abstract available.
ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain.
Myllykangas L, Polvikoski T, Reunanen K, Wavrant-De Vrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ. Myllykangas L, et al. Among authors: haltia mj. Am J Med Genet. 2002 Apr 8;114(3):288-91. doi: 10.1002/ajmg.10202. Am J Med Genet. 2002. PMID: 11920850
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H, Yamanaka T, Toyama Y, Fujita A, Doi H, Nirasawa T, Murayama S, Matsumoto N, Shimogori T, Ikegawa M, Haltia MJ, Nukina N. Park H, et al. Among authors: haltia mj. Acta Neuropathol Commun. 2022 Mar 4;10(1):28. doi: 10.1186/s40478-022-01333-8. Acta Neuropathol Commun. 2022. PMID: 35246273 Free PMC article.
261 results