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A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
Tillotson R, Yan K, Ruston J, DeYoung T, Córdova A, Turcotte-Cardin V, Yee Y, Taylor C, Visuvanathan S, Babbs C, Ivakine EA, Sled JG, Nieman BJ, Picketts DJ, Justice MJ. Tillotson R, et al. Among authors: nieman bj. Hum Mol Genet. 2023 Jul 20;32(15):2485-2501. doi: 10.1093/hmg/ddad075. Hum Mol Genet. 2023. PMID: 37171606 Free PMC article.
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. Among authors: nieman bj. 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.
High-frequency ultrasound-guided intrathecal injections in a young mouse model: Targeting the central nervous system in drug delivery.
Choi SE, Rahman A, Ayoub T, Botelho O, Lee G, Gazdzinski LM, Wheeler AL, Weksberg R, Guger SL, Schachar RJ, Ito S, Hitzler J, Nieman BJ. Choi SE, et al. Among authors: nieman bj. J Neurosci Methods. 2023 Feb 15;386:109778. doi: 10.1016/j.jneumeth.2022.109778. Epub 2022 Dec 23. J Neurosci Methods. 2023. PMID: 36572156 Free 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. Among authors: nieman bj. 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.
82 results