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Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Bhattacharjee R, Jolly LA, Corbett MA, Wee IC, Rao SR, Gardner AE, Ritchie T, van Hugte EJH, Ciptasari U, Piltz S, Noll JE, Nazri N, van Eyk CL, White M, Fornarino D, Poulton C, Baynam G, Collins-Praino LE, Snel MF, Nadif Kasri N, Hemsley KM, Thomas PQ, Kumar R, Gecz J. Bhattacharjee R, et al. Among authors: hemsley km. Nat Commun. 2024 Feb 8;15(1):1210. doi: 10.1038/s41467-024-45121-5. Nat Commun. 2024. PMID: 38331934 Free PMC article.
Is the eye a window to the brain in Sanfilippo syndrome?
Beard H, Chidlow G, Neumann D, Nazri N, Douglass M, Trim PJ, Snel MF, Casson RJ, Hemsley KM. Beard H, et al. Among authors: hemsley km. Acta Neuropathol Commun. 2020 Nov 17;8(1):194. doi: 10.1186/s40478-020-01070-w. Acta Neuropathol Commun. 2020. PMID: 33203474 Free PMC article.
Is SGSH heterozygosity a risk factor for early-onset neurodegenerative disease?
Douglass ML, Beard H, Shoubridge A, Nazri N, King B, Trim PJ, Duplock SK, Snel MF, Hopwood JJ, Hemsley KM. Douglass ML, et al. Among authors: hemsley km. J Inherit Metab Dis. 2021 May;44(3):763-776. doi: 10.1002/jimd.12359. Epub 2021 Jan 25. J Inherit Metab Dis. 2021. PMID: 33423317
Filipin complex-reactive brain lesions: a cautionary tale.
Lau AA, Trim PJ, King BM, Hassiotis S, Hung YH, Bush AI, Snel MF, Hemsley KM. Lau AA, et al. Among authors: hemsley km. Neuropathol Appl Neurobiol. 2023 Dec 19:e12950. doi: 10.1111/nan.12950. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38112248
74 results