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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… See abstract for full author list ➔ Nicolas A, et al. Among authors: van es ma, van eijk kr, van blitterswijk m, van eyk je, van vugt jjfa, van der spek ra, van damme p, van den berg lh, van rheenen w, van den bosch l, van deerlin vm. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
Retinal photoreceptor layer thickness has disease specificity and distinguishes predicted FTLD-Tau from biomarker-determined Alzheimer's disease.
Kim BJ, Grossman M, Aleman TS, Song D, Cousins KAQ, McMillan CT, Saludades A, Yu Y, Lee EB, Wolk D, Van Deerlin VM, Shaw LM, Ying GS, Irwin DJ. Kim BJ, et al. Among authors: van deerlin vm. Neurobiol Aging. 2023 May;125:74-82. doi: 10.1016/j.neurobiolaging.2023.01.015. Epub 2023 Feb 1. Neurobiol Aging. 2023. PMID: 36857870 Free PMC article.
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study.
Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA; Pick's disease International Consortium. Valentino RR, et al. Lancet Neurol. 2024 May;23(5):487-499. doi: 10.1016/S1474-4422(24)00083-8. Lancet Neurol. 2024. PMID: 38631765 Free article.
GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders.
Brody EM, Seo Y, Suh E, Amari N, Hartstone WG, Skrinak RT, Zhang H, Diaz-Ortiz ME, Weintraub D, Tropea TF, Van Deerlin VM, Chen-Plotkin AS. Brody EM, et al. Among authors: van deerlin vm. Mov Disord. 2024 Apr 12. doi: 10.1002/mds.29773. Online ahead of print. Mov Disord. 2024. PMID: 38610104
Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies.
Nazeen S, Wang X, Zielinski D, Lam I, Hallacli E, Xu P, Ethier E, Strom R, Zanella CA, Nithianandam V, Ritter D, Henderson A, Saurat N, Afroz J, Nutter-Upham A, Benyamini H, Copty J, Ravishankar S, Morrow A, Mitchel J, Neavin D, Gupta R, Farbehi N, Grundman J, Myers RH, Scherzer CR, Trojanowski JQ, Van Deerlin VM, Cooper AA, Lee EB, Erlich Y, Lindquist S, Peng J, Geschwind DH, Powell J, Studer L, Feany MB, Sunyaev SR, Khurana V. Nazeen S, et al. Among authors: van deerlin vm. bioRxiv [Preprint]. 2024 Mar 7:2024.03.03.583145. doi: 10.1101/2024.03.03.583145. bioRxiv. 2024. PMID: 38496508 Free PMC article. Preprint.
252 results