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Page 1
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. Winkelmann J, et al. Among authors: kornum br. Hum Mol Genet. 2012 May 15;21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9. Hum Mol Genet. 2012. PMID: 22328086 Free PMC article.
Common variants in P2RY11 are associated with narcolepsy.
Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, Axtell RC, Kuipers H, Weiner K, Hamacher A, Kassack MU, Han F, Knudsen S, Li J, Dong X, Winkelmann J, Plazzi G, Nevsimalova S, Hong SC, Honda Y, Honda M, Högl B, Ton TG, Montplaisir J, Bourgin P, Kemlink D, Huang YS, Warby S, Einen M, Eshragh JL, Miyagawa T, Desautels A, Ruppert E, Hesla PE, Poli F, Pizza F, Frauscher B, Jeong JH, Lee SP, Strohl KP, Longstreth WT Jr, Kvale M, Dobrovolna M, Ohayon MM, Nepom GT, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Peppard P, Young T, Jennum P, Steinman L, Tokunaga K, Kwok PY, Risch N, Hallmayer J, Mignot E. Kornum BR, et al. Nat Genet. 2011 Jan;43(1):66-71. doi: 10.1038/ng.734. Epub 2010 Dec 19. Nat Genet. 2011. PMID: 21170044 Free PMC article.
Predictors of hypocretin (orexin) deficiency in narcolepsy without cataplexy.
Andlauer O, Moore H 4th, Hong SC, Dauvilliers Y, Kanbayashi T, Nishino S, Han F, Silber MH, Rico T, Einen M, Kornum BR, Jennum P, Knudsen S, Nevsimalova S, Poli F, Plazzi G, Mignot E. Andlauer O, et al. Among authors: kornum br. Sleep. 2012 Sep 1;35(9):1247-55F. doi: 10.5665/sleep.2080. Sleep. 2012. PMID: 22942503 Free PMC article.
ImmunoChip study implicates antigen presentation to T cells in narcolepsy.
Faraco J, Lin L, Kornum BR, Kenny EE, Trynka G, Einen M, Rico TJ, Lichtner P, Dauvilliers Y, Arnulf I, Lecendreux M, Javidi S, Geisler P, Mayer G, Pizza F, Poli F, Plazzi G, Overeem S, Lammers GJ, Kemlink D, Sonka K, Nevsimalova S, Rouleau G, Desautels A, Montplaisir J, Frauscher B, Ehrmann L, Högl B, Jennum P, Bourgin P, Peraita-Adrados R, Iranzo A, Bassetti C, Chen WM, Concannon P, Thompson SD, Damotte V, Fontaine B, Breban M, Gieger C, Klopp N, Deloukas P, Wijmenga C, Hallmayer J, Onengut-Gumuscu S, Rich SS, Winkelmann J, Mignot E. Faraco J, et al. Among authors: kornum br. PLoS Genet. 2013;9(2):e1003270. doi: 10.1371/journal.pgen.1003270. Epub 2013 Feb 14. PLoS Genet. 2013. PMID: 23459209 Free PMC article.
CD4+ T cell autoimmunity to hypocretin/orexin and cross-reactivity to a 2009 H1N1 influenza A epitope in narcolepsy.
De la Herrán-Arita AK, Kornum BR, Mahlios J, Jiang W, Lin L, Hou T, Macaubas C, Einen M, Plazzi G, Crowe C, Newell EW, Davis MM, Mellins ED, Mignot E. De la Herrán-Arita AK, et al. Among authors: kornum br. Sci Transl Med. 2013 Dec 18;5(216):216ra176. doi: 10.1126/scitranslmed.3007762. Sci Transl Med. 2013. Retraction in: Sci Transl Med. 2014 Jul 30;6(247):247rt1. doi: 10.1126/scitranslmed.3009995 PMID: 24353159 Retracted.
Retraction of the research article: "CD4⁺ T cell autoimmunity to hypocretin/orexin and cross-reactivity to a 2009 H1N1 influenza A epitope in narcolepsy".
De la Herrán-Arita AK, Kornum BR, Mahlios J, Jiang W, Lin L, Hou T, Macaubas C, Einen M, Plazzi G, Crowe C, Newell EW, Davis MM, Mellins ED, Mignot E. De la Herrán-Arita AK, et al. Among authors: kornum br. Sci Transl Med. 2014 Jul 30;6(247):247rt1. doi: 10.1126/scitranslmed.3009995. Sci Transl Med. 2014. PMID: 25080479 No abstract available.
Does autoreactivity have a role in narcolepsy?
Partinen M, Kornum BR, Plazzi G, Jennum P, Julkunen I, Vaarala O. Partinen M, et al. Among authors: kornum br. Lancet Neurol. 2014 Nov;13(11):1072-1073. doi: 10.1016/S1474-4422(14)70168-1. Lancet Neurol. 2014. PMID: 25316012 No abstract available.
83 results