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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
Unusual muscle disease in HIV infected patients.
Roedling S, Pearl D, Manji H, Hanna MG, Holton JL, Miller RF. Roedling S, et al. Among authors: holton jl. Sex Transm Infect. 2004 Aug;80(4):315-7. doi: 10.1136/sti.2003.008474. Sex Transm Infect. 2004. PMID: 15295133 Free PMC article. Review.
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.
Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J, Mead S. Beck J, et al. Among authors: holton j. Brain. 2008 Mar;131(Pt 3):706-20. doi: 10.1093/brain/awm320. Epub 2008 Jan 29. Brain. 2008. PMID: 18234697 Free PMC article.
721 results