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Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
Kumar-Singh S, De Jonghe C, Cruts M, Kleinert R, Wang R, Mercken M, De Strooper B, Vanderstichele H, Löfgren A, Vanderhoeven I, Backhovens H, Vanmechelen E, Kroisel PM, Van Broeckhoven C. Kumar-Singh S, et al. Hum Mol Genet. 2000 Nov 1;9(18):2589-98. doi: 10.1093/hmg/9.18.2589. Hum Mol Genet. 2000. PMID: 11063718
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
Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric.
Kumar-Singh S, Cras P, Wang R, Kros JM, van Swieten J, Lübke U, Ceuterick C, Serneels S, Vennekens K, Timmermans JP, Van Marck E, Martin JJ, van Duijn CM, Van Broeckhoven C. Kumar-Singh S, et al. Am J Pathol. 2002 Aug;161(2):507-20. doi: 10.1016/S0002-9440(10)64207-1. Am J Pathol. 2002. PMID: 12163376 Free PMC article.
193 results