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CWH43 Variants Are Associated With Disease Risk and Clinical Phenotypic Measures in Patients With Normal Pressure Hydrocephalus.
Tipton PW, Atik M, Soto-Beasley AI, Day GS, Grewal SS, Chaichana K, Fermo OP, Ball CT, Heckman MG, White LJ, Quicksall ZS, Reddy JS, Ramanan VK, Vemuri P, Elder BD, Ertekin-Taner N, Ross O, Graff-Radford N. Tipton PW, et al. Neurol Genet. 2023 Jul 19;9(5):e200086. doi: 10.1212/NXG.0000000000200086. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37476022 Free PMC article.
CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD.
Pickles S, Zanetti Alepuz D, Koike Y, Yue M, Tong J, Liu P, Zhou Y, Jansen-West K, Daughrity LM, Song Y, DeTure M, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Dickson DW, Ward ME, Dong L, Prudencio M, Cook CN, Petrucelli L. Pickles S, et al. Front Cell Dev Biol. 2023 Aug 7;11:1251551. doi: 10.3389/fcell.2023.1251551. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37614226 Free PMC article.
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. Marks JD, et al. Sci Transl Med. 2024 Jan 17;16(730):eadf9735. doi: 10.1126/scitranslmed.adf9735. Epub 2024 Jan 17. Sci Transl Med. 2024. PMID: 38232138 Free PMC article.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Udine E, et al. Among authors: graff radford nr. Acta Neuropathol. 2024 Apr 19;147(1):73. doi: 10.1007/s00401-024-02720-2. Acta Neuropathol. 2024. PMID: 38641715 Free PMC article.
Sex difference in evolution of cognitive decline: studies on mouse model and the Dominantly Inherited Alzheimer Network cohort.
Kommaddi RP, Verma A, Muniz-Terrera G, Tiwari V, Chithanathan K, Diwakar L, Gowaikar R, Karunakaran S, Malo PK, Graff-Radford NR, Day GS, Laske C, Vöglein J, Nübling G, Ikeuchi T, Kasuga K; Dominantly Inherited Alzheimer Network (DIAN); Ravindranath V. Kommaddi RP, et al. Transl Psychiatry. 2023 Apr 12;13(1):123. doi: 10.1038/s41398-023-02411-8. Transl Psychiatry. 2023. PMID: 37045867 Free PMC article.
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