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Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC). Austin CP, et al. Among authors: julkowska d. Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Clin Transl Sci. 2018. PMID: 28796445 Free PMC article. Review. No abstract available.
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: julkowska d. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
Research on rare diseases: ten years of progress and challenges at IRDiRC.
Monaco L, Zanello G, Baynam G, Jonker AH, Julkowska D, Hartman AL, O'Connor D, Wang CM, Wong-Rieger D, Pearce DA. Monaco L, et al. Among authors: julkowska d. Nat Rev Drug Discov. 2022 May;21(5):319-320. doi: 10.1038/d41573-022-00019-z. Nat Rev Drug Discov. 2022. PMID: 35079160 Free PMC article. No abstract available.
Proteomic analysis of intact flagella of procyclic Trypanosoma brucei cells identifies novel flagellar proteins with unique sub-localization and dynamics.
Subota I, Julkowska D, Vincensini L, Reeg N, Buisson J, Blisnick T, Huet D, Perrot S, Santi-Rocca J, Duchateau M, Hourdel V, Rousselle JC, Cayet N, Namane A, Chamot-Rooke J, Bastin P. Subota I, et al. Among authors: julkowska d. Mol Cell Proteomics. 2014 Jul;13(7):1769-86. doi: 10.1074/mcp.M113.033357. Epub 2014 Apr 16. Mol Cell Proteomics. 2014. PMID: 24741115 Free PMC article.
19 results