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523 results

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Page 1
Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins.
Oatman SR, Reddy JS, Quicksall Z, Carrasquillo MM, Wang X, Liu CC, Yamazaki Y, Nguyen TT, Malphrus K, Heckman M, Biswas K, Nho K, Baker M, Martens YA, Zhao N, Kim JP, Risacher SL, Rademakers R, Saykin AJ, DeTure M, Murray ME, Kanekiyo T; Alzheimer’s Disease Neuroimaging Initiative; Dickson DW, Bu G, Allen M, Ertekin-Taner N. Oatman SR, et al. Among authors: rademakers r. Mol Neurodegener. 2023 Jan 7;18(1):2. doi: 10.1186/s13024-022-00592-2. Mol Neurodegener. 2023. PMID: 36609403 Free PMC article.
The MAPT p.E342K and p.R406W mutations are associated with progressive supranuclear palsy with atypical features.
Badihian N, Ali F, Botha H, Savica R, Machulda MM, Clark HM, Stierwalt JAG, Pham NTT, Baker MC, Rademakers R, Lowe V, Whitwell JL, Josephs KA. Badihian N, et al. Among authors: rademakers r. Parkinsonism Relat Disord. 2024 Feb;119:105962. doi: 10.1016/j.parkreldis.2023.105962. Epub 2023 Dec 17. Parkinsonism Relat Disord. 2024. PMID: 38134678
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. Among authors: rademakers r. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis.
Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J; CReATe Consortium PGB1 Study Investigators. Benatar M, et al. Among authors: rademakers r. EBioMedicine. 2024 Oct;108:105323. doi: 10.1016/j.ebiom.2024.105323. Epub 2024 Sep 12. EBioMedicine. 2024. PMID: 39270623 Free PMC article.
Scywalker: scalable end-to-end data analysis workflow for long-read single-cell transcriptome sequencing.
De Rijk P, Watzeels T, Küçükali F, Van Dongen J, Faura J, Willems P, De Deyn L, Duchateau L, Grones C, Eekhout T, De Pooter T, Joris G, Rombauts S, De Rybel B, Rademakers R, Van Breusegem F, Strazisar M, Sleegers K, De Coster W. De Rijk P, et al. Among authors: rademakers r. Bioinformatics. 2024 Sep 2;40(9):btae549. doi: 10.1093/bioinformatics/btae549. Bioinformatics. 2024. PMID: 39254601 Free PMC article.
Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease.
Casaletto KB, Saloner R, Kornak J, Staffaroni AM, Villeda S, Paolillo E, VandeBunte AM, Cadwallader CJ, Lario Lago A, Webb J, Chen C, Rascovsky K, Miyagawa T, Ramos EM, Masdeu JC, Pantelyat A, Tartaglia MC, Bozoki A, Pressman PS, Rademakers R, Kremers W, Darby R, Younes K, Pascual B, Ghoshal N, Lapid M, Mackenzie IRA, Li J, Hsiung GR, Hall JN, Yutsis MV, Litvan I, Henderson VW, Sivasankaran R, Worringer K, Domoto-Reilly K, Synder A, Loureiro J, Kramer JH, Heuer H, Forsberg LK, Rosen HJ, Boeve B, Rojas JC, Boxer AL. Casaletto KB, et al. Among authors: rademakers r. Brain Commun. 2025 Jan 15;7(1):fcae432. doi: 10.1093/braincomms/fcae432. eCollection 2025. Brain Commun. 2025. PMID: 39816189 Free PMC article.
White matter pathology in FTLD caused by GRN mutations.
Lee H, Cheung S, Perneel J, Rademakers R, Hsiung GYR, Mackenzie IRA. Lee H, et al. Among authors: rademakers r. Acta Neuropathol. 2025 Jan 15;149(1):7. doi: 10.1007/s00401-025-02847-w. Acta Neuropathol. 2025. PMID: 39812821 No abstract available.
Clinical criteria for limbic-predominant age-related TDP-43 encephalopathy.
Wolk DA, Nelson PT, Apostolova L, Arfanakis K, Boyle PA, Carlsson CM, Corriveau-Lecavalier N, Dacks P, Dickerson BC, Domoto-Reilly K, Dugger BN, Edelmayer R, Fardo DW, Grothe MJ, Hohman TJ, Irwin DJ, Jicha GA, Jones DT, Kawas CH, Lee EB, Lincoln K, Maestre GE, Mormino EC, Onyike CU, Petersen RC, Rabinovici GD, Rademakers R, Raman R, Rascovsky K, Rissman RA, Rogalski E, Scheltens P, Sperling RA, Yang HS, Yu L, Zetterberg H, Schneider JA. Wolk DA, et al. Among authors: rademakers r. Alzheimers Dement. 2025 Jan 14:e14202. doi: 10.1002/alz.14202. Online ahead of print. Alzheimers Dement. 2025. PMID: 39807681
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.
Udine E, Finch NA, DeJesus-Hernandez M, Jackson JL, Baker MC, Saravanaperumal SA, Wieben E, Ebbert MTW, Shah J, Petrucelli L, Rademakers R, Oskarsson B, van Blitterswijk M. Udine E, et al. Among authors: rademakers r. Mol Neurodegener. 2024 Dec 21;19(1):99. doi: 10.1186/s13024-024-00790-0. Mol Neurodegener. 2024. PMID: 39709476 Free PMC article.
523 results