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Year Number of Results
2004 1
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2009 12
2010 10
2011 7
2012 11
2013 16
2014 13
2015 12
2016 15
2017 12
2018 9
2019 17
2020 26
2021 31
2022 26
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215 results

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Page 1
Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.
Lake J, Warly Solsberg C, Kim JJ, Acosta-Uribe J, Makarious MB, Li Z, Levine K, Heutink P, Alvarado CX, Vitale D, Kang S, Gim J, Lee KH, Pina-Escudero SD, Ferrucci L, Singleton AB, Blauwendraat C, Nalls MA, Yokoyama JS, Leonard HL. Lake J, et al. Mol Psychiatry. 2023 Jul;28(7):3121-3132. doi: 10.1038/s41380-023-02089-w. Epub 2023 May 18. Mol Psychiatry. 2023. PMID: 37198259 Free PMC article.
Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 Free PMC article.
Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population.
Pan H, Liu Z, Ma J, Li Y, Zhao Y, Zhou X, Xiang Y, Wang Y, Zhou X, He R, Xie Y, Zhou Q, Yuan K, Xu Q, Sun Q, Wang J, Yan X, Zhang H, Wang C, Lei L, Liu W, Wang X, Ding X, Wang T, Xue Z, Zhang Z, Chen L, Wang Q, Liu Y, Tang J, Zhang X, Peng S, Wang C, Ding J, Liu C, Wang L, Chen H, Shen L, Jiang H, Wu X, Tan H, Luo D, Xiao S, Chen X, Tan J, Hu Z, Chen C, Xia K, Zhang Z, Foo JN, Blauwendraat C, Nalls MA, Singleton AB, Liu J, Chan P, Zheng H, Li J, Guo J, Yang J, Tang B; Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC). Pan H, et al. NPJ Parkinsons Dis. 2023 Feb 9;9(1):22. doi: 10.1038/s41531-023-00456-6. NPJ Parkinsons Dis. 2023. PMID: 36759515 Free PMC article.
ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function.
Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. Baron DM, et al. Cell Rep. 2022 Apr 5;39(1):110598. doi: 10.1016/j.celrep.2022.110598. Cell Rep. 2022. PMID: 35385738 Free PMC article.
Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease.
Domenighetti C, Sugier PE, Sreelatha AAK, Schulte C, Grover S, Mohamed O, Portugal B, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Duga S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Kawamura Y, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BP, Bloem BR, Aasly J, Toft M, Pihlstrøm L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Krüger R, Gasser T, Sharma M, Elbaz A; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (Courage-PD) consortium. Domenighetti C, et al. J Parkinsons Dis. 2022;12(1):267-282. doi: 10.3233/JPD-212851. J Parkinsons Dis. 2022. PMID: 34633332 Free PMC article.
215 results