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Page 1
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP. Magrinelli F, et al. Among authors: lewis pa. Mov Disord. 2022 Jan;37(1):148-161. doi: 10.1002/mds.28807. Epub 2021 Oct 8. Mov Disord. 2022. PMID: 34622992
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
Genetic neuropathology of Parkinson's disease.
Cookson MR, Hardy J, Lewis PA. Cookson MR, et al. Among authors: lewis pa. Int J Clin Exp Pathol. 2008 Jan 1;1(3):217-31. Int J Clin Exp Pathol. 2008. PMID: 18784814 Free PMC article.
α-Synuclein mutations cluster around a putative protein loop.
Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J. Kara E, et al. Among authors: lewis pa. Neurosci Lett. 2013 Jun 24;546:67-70. doi: 10.1016/j.neulet.2013.04.058. Epub 2013 May 10. Neurosci Lett. 2013. PMID: 23669636 Free PMC article.
The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.
Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H, Plun-Favreau H. Burchell VS, et al. Among authors: lewis pa. Nat Neurosci. 2013 Sep;16(9):1257-65. doi: 10.1038/nn.3489. Epub 2013 Aug 11. Nat Neurosci. 2013. PMID: 23933751 Free PMC article.
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.
Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J; International Parkinson Disease Genomics Consortium (IPDGC); Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V. Trabzuni D, et al. Among authors: lewis pa. PLoS One. 2013 Aug 13;8(8):e70724. doi: 10.1371/journal.pone.0070724. eCollection 2013. PLoS One. 2013. PMID: 23967090 Free PMC article.
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL. Kiely AP, et al. Among authors: lewis pa. Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3. Mol Neurodegener. 2015. PMID: 26306801 Free PMC article.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Among authors: lewis pa. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium. Lubbe SJ, et al. Among authors: lewis pa. Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348. Hum Mol Genet. 2016. PMID: 27798102 Free PMC article.
366 results