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Page 1
Neuronal intranuclear inclusion disease in New Zealand: A novel discovery.
Zhang T, Chancellor A, Liem B, Turner C, Hutchinson D, Wong E, Glamuzina E, Hong JB, Cleland J, Child N, Roxburgh RH, Patel S, Lee YC, Liao YC, Anderson NE. Zhang T, et al. Among authors: roxburgh rh. J Neurol Sci. 2024 May 15;460:122987. doi: 10.1016/j.jns.2024.122987. Epub 2024 Apr 3. J Neurol Sci. 2024. PMID: 38579412
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: roxburgh rh. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free PMC article.
Mitochondrial disease in New Zealand: a nationwide prevalence study.
Missen S, Wilson C, Potter H, Vincent AL, Murphy R, Roxburgh R, Rodrigues M, Poke G, Robertson SP, Thorburn DR, Glamuzina E. Missen S, et al. Intern Med J. 2024 Mar;54(3):388-397. doi: 10.1111/imj.16211. Epub 2023 Sep 21. Intern Med J. 2024. PMID: 37732891
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I, Frajman LE, Ryder B, Andersen E, Wilson C, McKeown C, Anderson T, Coman D, Vincent AL, Buchanan C, Roxburgh R, Pitt J, De Hora M, Christodoulou J, Thorburn DR, Wilson F, Drake KM, Leask M, Yardley AM, Merriman T, Robertson S, Compton AG, Glamuzina E. Bernhardt I, et al. Mol Genet Metab. 2024 Jul;142(3):108508. doi: 10.1016/j.ymgme.2024.108508. Epub 2024 May 25. Mol Genet Metab. 2024. PMID: 38820906
Decision cost hypersensitivity underlies Huntington's disease apathy.
Morris LA, Horne KL, Manohar S, Paermentier L, Buchanan C, MacAskill M, Myall D, Apps M, Roxburgh R, Anderson T, Husain M, Le Heron C. Morris LA, et al. Brain. 2024 Sep 12:awae296. doi: 10.1093/brain/awae296. Online ahead of print. Brain. 2024. PMID: 39269457
Apathy and Impulsivity Co-Occur in Huntington's Disease.
Morris LA, Horne KL, Paermentier L, Buchanan CM, MacAskill M, Myall D, Husain M, Roxburgh R, Anderson T, Heron CL. Morris LA, et al. Brain Behav. 2024 Oct;14(10):e70061. doi: 10.1002/brb3.70061. Brain Behav. 2024. PMID: 39344371 Free PMC article.
49 results