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Alzheimer disease PS-1 exon 9 deletion defined.
Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M. Prihar G, et al. Among authors: somer m. Nat Med. 1999 Oct;5(10):1090. doi: 10.1038/13383. Nat Med. 1999. PMID: 10502791 No abstract available.
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: somer m. Ann Neurol. 2000 Nov;48(5):806-8. Ann Neurol. 2000. PMID: 11079548
[New variant of Alzheimer's disease].
Verkkoniemi A, Somer M, Haltia M. Verkkoniemi A, et al. Among authors: somer m. Duodecim. 1998;114(24):2509-11. Duodecim. 1998. PMID: 11757118 Finnish. No abstract available.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: somer h, somer m. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
86 results