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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1971 1
1976 1
1978 2
1979 1
1981 1
1982 2
1983 1
1984 4
1985 5
1986 3
1987 2
1989 4
1990 2
1991 1
1992 3
1994 2
1995 1
1996 3
1997 1
1998 1
1999 3
2000 2
2001 2
2002 4
2003 1
2004 1
2005 5
2006 4
2007 6
2008 2
2009 3
2010 5
2011 11
2012 9
2013 8
2014 5
2015 11
2016 19
2017 11
2018 9
2019 14
2020 12
2021 9
2022 9
2023 15
2024 3

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200 results

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Page 1
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.
Beck M, Ramaswami U, Hernberg-Ståhl E, Hughes DA, Kampmann C, Mehta AB, Nicholls K, Niu DM, Pintos-Morell G, Reisin R, West ML, Schenk J, Anagnostopoulou C, Botha J, Giugliani R. Beck M, et al. Among authors: nicholls k. Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9. Orphanet J Rare Dis. 2022. PMID: 35725623 Free PMC article. Review.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: nicholls k. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free 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.
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.
Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. Schiffmann R, et al. Among authors: nicholls k. J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834538 Clinical Trial.
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.
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.
Randomized controlled trial of omalizumab in treatment-resistant systemic and cutaneous mastocytosis (ROAM).
McComish JS, Slade CA, Buizen L, Paul SK, Chatelier JW, Unglik G, Nicholls KA, Spriggs K, Chan SS, Godsell J, Auyeung P, Tan ZH, DeLuca J, Patel M, Kuek LE, Tran Y, Kern JS, Scardamaglia L, Varigos GA, Juneja S, Grabek JA, Christie M, Mackay GA, Douglass JA. McComish JS, et al. Among authors: nicholls ka. J Allergy Clin Immunol Pract. 2023 Jul;11(7):2248-2250.e3. doi: 10.1016/j.jaip.2023.04.008. Epub 2023 Apr 23. J Allergy Clin Immunol Pract. 2023. PMID: 37088371 Clinical Trial. No abstract available.
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M, Parker BL, Liu NQ, Qian EL, Vivien C, Karavendzas K, Mills RJ, Saville JT, Abu-Bonsrah D, Wise AF, Hudson JE, Talbot AS, Finn PF, Martini PGV, Fuller M, Ricardo SD, Watt KI, Nicholls KM, Porrello ER, Elliott DA. Ter Huurne M, et al. Among authors: nicholls km. Am J Hum Genet. 2023 Sep 7;110(9):1600-1605. doi: 10.1016/j.ajhg.2023.07.013. Epub 2023 Aug 21. Am J Hum Genet. 2023. PMID: 37607539 Free PMC article.
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.
Linhart A, Dostálová G, Nicholls K, West ML, Tøndel C, Jovanovic A, Giraldo P, Vujkovac B, Geberhiwot T, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Hughes D. Linhart A, et al. Among authors: nicholls k. Orphanet J Rare Dis. 2023 Oct 21;18(1):332. doi: 10.1186/s13023-023-02937-6. Orphanet J Rare Dis. 2023. PMID: 37865771 Free PMC article.
200 results