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Page 1
Novel plasma and brain proteins that are implicated in multiple sclerosis.
Lin X, Yang Y, Gresle M, Cuellar-Partida G, Han X, Stankovich J; AusLong/Ausimmune Investigators Group; Simpson-Yap S, Fuh-Ngwa V, Charlesworth J, Burdon KP, Butzkueven H, Taylor BV, Zhou Y. Lin X, et al. Among authors: stankovich j. Brain. 2023 Jun 1;146(6):2464-2475. doi: 10.1093/brain/awac420. Brain. 2023. PMID: 36346149
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: stankovich j. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: stankovich jm. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
Rubio JP, Bahlo M, Tubridy N, Stankovich J, Burfoot R, Butzkueven H, Chapman C, Johnson L, Marriott M, Mraz G, Tait B, Wilkinson C, Taylor B, Speed TP, Foote SJ, Kilpatrick TJ. Rubio JP, et al. Among authors: stankovich j. Hum Genet. 2004 May;114(6):573-80. doi: 10.1007/s00439-004-1095-9. Epub 2004 Mar 11. Hum Genet. 2004. PMID: 15014978
Multiple sclerosis: a haplotype association study.
Foote SJ, Rubio JP, Bahlo M, Kilpatrick TJ, Speed TP, Stankovich J, Burfoot R, Butzkueven H, Johnson L, Wilkinson C, Taylor B, Sale M, van der Mei IA, Dickinson JL, Groom P. Foote SJ, et al. Among authors: stankovich j. Novartis Found Symp. 2005;267:31-9; discussion 39-45. Novartis Found Symp. 2005. PMID: 15999799
143 results