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LRRK2 exonic variants and risk of multiple system atrophy.
Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. Heckman MG, et al. Among authors: holton jl. Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378673 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
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
A common LRRK2 mutation in idiopathic Parkinson's disease.
Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW. Gilks WP, et al. Among authors: holton jl. Lancet. 2005 Jan 29-Feb 4;365(9457):415-6. doi: 10.1016/S0140-6736(05)17830-1. Lancet. 2005. PMID: 15680457
UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
Healy DG, Abou-Sleiman PM, Quinn N, Ahmadi KR, Ozawa T, Kamm C, Wullner U, Oertel WH, Burk K, Dupont E, Pellecchia MT, Tolosa E, Gasser T, Holton JL, Revesz T, Goldstein DB, Lees AJ, Wood NW; European MSA Study Group. Healy DG, et al. Among authors: holton jl. Mov Disord. 2005 Oct;20(10):1338-43. doi: 10.1002/mds.20575. Mov Disord. 2005. PMID: 16007636
364 results