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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: van blitterswijk m. Acta Neuropathol. 2024 Apr 19;147(1):73. doi: 10.1007/s00401-024-02720-2. Acta Neuropathol. 2024. PMID: 38641715 Free PMC article.
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Milioto C, Carcolé M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. Milioto C, et al. Among authors: van blitterswijk m. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. Epub 2024 Feb 29. Nat Neurosci. 2024. PMID: 38424324 Free PMC article.
Exploring shared features in neurodegenerative diseases.
Jain A, Udine E, van Blitterswijk M. Jain A, et al. Among authors: van blitterswijk m. Brain. 2023 Nov 2;146(11):4405-4407. doi: 10.1093/brain/awad337. Brain. 2023. PMID: 37791588 No abstract available.
Evidence-based consensus guidelines for ALS genetic testing and counseling.
Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Roggenbuck J, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2074-2091. doi: 10.1002/acn3.51895. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691292 Free PMC article.
Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.
Monnakgotla NR, Mahungu AC, Heckmann JM, Botha G, Mulder NJ, Wu G, Rampersaud E, Myers J, Van Blitterswijk M, Rademakers R, Taylor JP, Wuu J, Benatar M, Nel M. Monnakgotla NR, et al. Among authors: van blitterswijk m. Neurol Genet. 2023 Jun 16;9(4):e200077. doi: 10.1212/NXG.0000000000200077. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37346932 Free PMC article.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: van blitterswijk m. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology.
Meneses AD, Koga S, Li Z, O'Leary J, Li F, Chen K, Murakami A, Qiao W, Kurti A, Heckman MG, White L, Xie M, Chen Y, Finch NA, Lim MJ, Delenclos M, DeTure MA, Linares C, Martin NB, Ikezu TC, van Blitterswijk MM, Wu LJ, McLean PJ, Rademakers R, Ross OA, Dickson DW, Bu G, Zhao N. Meneses AD, et al. Among authors: van blitterswijk mm. Ann Neurol. 2023 Apr;93(4):830-843. doi: 10.1002/ana.26580. Epub 2023 Jan 10. Ann Neurol. 2023. PMID: 36546684 Free PMC article.
Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.
Gao J, Mewborne QT, Girdhar A, Sheth U, Coyne AN, Punathil R, Kang BG, Dasovich M, Veire A, DeJesus Hernandez M, Liu S, Shi Z, Dafinca R, Fouquerel E, Talbot K, Kam TI, Zhang YJ, Dickson D, Petrucelli L, van Blitterswijk M, Guo L, Dawson TM, Dawson VL, Leung AKL, Lloyd TE, Gendron TF, Rothstein JD, Zhang K. Gao J, et al. Among authors: van blitterswijk m. Sci Transl Med. 2022 Sep 14;14(662):eabq3215. doi: 10.1126/scitranslmed.abq3215. Epub 2022 Sep 14. Sci Transl Med. 2022. PMID: 36103513 Free PMC article.
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM. Nel M, et al. Among authors: van blitterswijk m. Neurol Genet. 2022 Jan 12;8(1):e654. doi: 10.1212/NXG.0000000000000654. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35047667 Free PMC article.
83 results