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Year Number of Results
2017 1
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2019 3
2020 3
2021 6
2022 3
2023 1
2024 1

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TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Godoy-Corchuelo JM, Ali Z, Brito Armas JM, Martins-Bach AB, García-Toledo I, Fernández-Beltrán LC, López-Carbonero JI, Bascuñana P, Spring S, Jimenez-Coca I, Muñoz de Bustillo Alfaro RA, Sánchez-Barrena MJ, Nair RR, Nieman BJ, Lerch JP, Miller KL, Ozdinler HP, Fisher EMC, Cunningham TJ, Acevedo-Arozena A, Corrochano S. Godoy-Corchuelo JM, et al. Neurobiol Dis. 2024 Apr;193:106437. doi: 10.1016/j.nbd.2024.106437. Epub 2024 Feb 15. Neurobiol Dis. 2024. PMID: 38367882 Free PMC article.
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.
Ali Z, Godoy-Corchuelo JM, Martins-Bach AB, Garcia-Toledo I, Fernández-Beltrán LC, Nair RR, Spring S, Nieman BJ, Jimenez-Coca I, Bains RS, Forrest H, Lerch JP, Miller KL, Fisher EMC, Cunningham TJ, Corrochano S. Ali Z, et al. Dis Model Mech. 2023 Oct 1;16(10):dmm050200. doi: 10.1242/dmm.050200. Epub 2023 Oct 23. Dis Model Mech. 2023. PMID: 37772684 Free PMC article.
Lipid Metabolic Alterations in the ALS-FTD Spectrum of Disorders.
Godoy-Corchuelo JM, Fernández-Beltrán LC, Ali Z, Gil-Moreno MJ, López-Carbonero JI, Guerrero-Sola A, Larrad-Sainz A, Matias-Guiu J, Matias-Guiu JA, Cunningham TJ, Corrochano S. Godoy-Corchuelo JM, et al. Biomedicines. 2022 May 10;10(5):1105. doi: 10.3390/biomedicines10051105. Biomedicines. 2022. PMID: 35625841 Free PMC article. Review.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. iScience. 2021 Nov 15;24(12):103463. doi: 10.1016/j.isci.2021.103463. eCollection 2021 Dec 17. iScience. 2021. PMID: 34988393 Free PMC article.
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P. Birsa N, et al. Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. Print 2021 Jul. Sci Adv. 2021. PMID: 34290090 Free PMC article.
19 results