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Page 1
The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.
Dawson J, Kay C, Black HF, Bortnick S, Javier K, Xia Q, Sandhu A, Buchanan C, Hogg V, Chang FCF, Goto J, Arning L, Saft C, Bijlsma EK, Nguyen HP, Roxburgh R, Hayden MR. Dawson J, et al. Among authors: roxburgh r. Genet Med. 2024 Nov;26(11):101239. doi: 10.1016/j.gim.2024.101239. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140258 Free article.
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. Among authors: roxburgh r. Brain Behav. 2024 Oct;14(10):e70061. doi: 10.1002/brb3.70061. Brain Behav. 2024. PMID: 39344371 Free PMC article.
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. Among authors: roxburgh r. 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. Among authors: roxburgh r. Brain. 2024 Sep 12:awae296. doi: 10.1093/brain/awae296. Online ahead of print. Brain. 2024. PMID: 39269457
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.
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: roxburgh rh. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: roxburgh rh. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
143 results