Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

234 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Retinal disease in the C3 glomerulopathies and the risk of impaired vision.
Savige J, Amos L, Ierino F, Mack HG, Symons RC, Hughes P, Nicholls K, Colville D. Savige J, et al. Among authors: nicholls k. Ophthalmic Genet. 2016 Dec;37(4):369-376. doi: 10.3109/13816810.2015.1101777. Epub 2016 Feb 25. Ophthalmic Genet. 2016. PMID: 26915021 Review.
Single-dose rituximab in refractory lupus nephritis.
Kotagiri P, Martin A, Hughes P, Becker G, Nicholls K. Kotagiri P, et al. Among authors: nicholls k. Intern Med J. 2016 Aug;46(8):899-901. doi: 10.1111/imj.13136. Intern Med J. 2016. PMID: 27242250
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: nicholls k. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: nicholls k. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
Clinical features of Fabry's disease in Australian patients.
Galanos J, Nicholls K, Grigg L, Kiers L, Crawford A, Becker G. Galanos J, et al. Among authors: nicholls k. Intern Med J. 2002 Dec;32(12):575-84. doi: 10.1046/j.1445-5994.2002.00291.x. Intern Med J. 2002. PMID: 12512750
Neurology of Fabry disease.
Low M, Nicholls K, Tubridy N, Hand P, Velakoulis D, Kiers L, Mitchell P, Becker G. Low M, et al. Among authors: nicholls k. Intern Med J. 2007 Jul;37(7):436-47. doi: 10.1111/j.1445-5994.2007.01366.x. Intern Med J. 2007. PMID: 17547722 Clinical Trial.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA, Bichet DG, Giugliani R, Hopkin RJ, Krusinska E, Nicholls K, Olivotto I, Feldt-Rasmussen U, Sakai N, Skuban N, Sunder-Plassmann G, Torra R, Wilcox WR. Hughes DA, et al. Among authors: nicholls k. J Med Genet. 2023 Jul;60(7):722-731. doi: 10.1136/jmg-2022-108669. Epub 2022 Dec 21. J Med Genet. 2023. PMID: 36543533 Free PMC article.
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG. Hughes DA, et al. Among authors: nicholls k. Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. Am J Med Genet A. 2019. PMID: 30920142 Free PMC article. Clinical Trial. No abstract available.
234 results