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2010 2
2011 6
2012 7
2013 8
2014 6
2015 3
2016 4
2017 4
2024 0

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35 results

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Page 1
Establishing the role of rare coding variants in known Parkinson's disease risk loci.
Jansen IE, Gibbs JR, Nalls MA, Price TR, Lubbe S, van Rooij J, Uitterlinden AG, Kraaij R, Williams NM, Brice A, Hardy J, Wood NW, Morris HR, Gasser T, Singleton AB, Heutink P, Sharma M; International Parkinson's Disease Genomics Consortium. Jansen IE, et al. Neurobiol Aging. 2017 Nov;59:220.e11-220.e18. doi: 10.1016/j.neurobiolaging.2017.07.009. Epub 2017 Aug 2. Neurobiol Aging. 2017. PMID: 28867149 Free PMC article.
Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study.
Noyce AJ, Kia DA, Hemani G, Nicolas A, Price TR, De Pablo-Fernandez E, Haycock PC, Lewis PA, Foltynie T, Davey Smith G; International Parkinson Disease Genomics Consortium; Schrag A, Lees AJ, Hardy J, Singleton A, Nalls MA, Pearce N, Lawlor DA, Wood NW. Noyce AJ, et al. PLoS Med. 2017 Jun 13;14(6):e1002314. doi: 10.1371/journal.pmed.1002314. eCollection 2017 Jun. PLoS Med. 2017. PMID: 28609445 Free PMC article.
NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases.
Blauwendraat C, Faghri F, Pihlstrom L, Geiger JT, Elbaz A, Lesage S, Corvol JC, May P, Nicolas A, Abramzon Y, Murphy NA, Gibbs JR, Ryten M, Ferrari R, Bras J, Guerreiro R, Williams J, Sims R, Lubbe S, Hernandez DG, Mok KY, Robak L, Campbell RH, Rogaeva E, Traynor BJ, Chia R, Chung SJ; International Parkinson's Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium; Hardy JA, Brice A, Wood NW, Houlden H, Shulman JM, Morris HR, Gasser T, Krüger R, Heutink P, Sharma M, Simón-Sánchez J, Nalls MA, Singleton AB, Scholz SW. Blauwendraat C, et al. Neurobiol Aging. 2017 Sep;57:247.e9-247.e13. doi: 10.1016/j.neurobiolaging.2017.05.009. Epub 2017 May 17. Neurobiol Aging. 2017. PMID: 28602509 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. Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348. Hum Mol Genet. 2016. PMID: 27798102 Free PMC article.
Equating scores of the University of Pennsylvania Smell Identification Test and Sniffin' Sticks test in patients with Parkinson's disease.
Lawton M, Hu MT, Baig F, Ruffmann C, Barron E, Swallow DM, Malek N, Grosset KA, Bajaj N, Barker RA, Williams N, Burn DJ, Foltynie T, Morris HR, Wood NW, May MT, Grosset DG, Ben-Shlomo Y. Lawton M, et al. Parkinsonism Relat Disord. 2016 Dec;33:96-101. doi: 10.1016/j.parkreldis.2016.09.023. Epub 2016 Sep 25. Parkinsonism Relat Disord. 2016. PMID: 27729202 Free PMC article.
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, Mantripragada K, Doherty KM, Noyce AJ, Mencacci NE, Lubbe SJ; International Parkinson's Disease Genomics Consortium (IPDGC); Williams-Gray CH, Barker RA, van Dijk KD, Berendse HW, Heutink P, Corvol JC, Cormier F, Lesage S, Brice A, Brockmann K, Schulte C, Gasser T, Foltynie T, Limousin P, Morrison KE, Clarke CE, Sawcer S, Warner TT, Lees AJ, Morris HR, Nalls MA, Singleton AB, Hardy J, Abramov AY, Plagnol V, Williams NM, Wood NW. Mok KY, et al. Lancet Neurol. 2016 May;15(6):585-96. doi: 10.1016/S1474-4422(16)00071-5. Epub 2016 Mar 24. Lancet Neurol. 2016. PMID: 27017469 Free PMC article.
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Charlesworth G, Angelova PR, Bartolomé-Robledo F, Ryten M, Trabzuni D, Stamelou M, Abramov AY, Bhatia KP, Wood NW. Charlesworth G, et al. Am J Hum Genet. 2015 Apr 2;96(4):657-65. doi: 10.1016/j.ajhg.2015.02.007. Epub 2015 Mar 19. Am J Hum Genet. 2015. PMID: 25799108 Free PMC article.
35 results