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Page 1
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. Among authors: poli f. 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.
Narcolepsy is strongly associated with the T-cell receptor alpha locus.
Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, Mayer G, Plazzi G, Nevsimalova S, Bourgin P, Hong SC, Honda Y, Honda M, Högl B, Longstreth WT Jr, Montplaisir J, Kemlink D, Einen M, Chen J, Musone SL, Akana M, Miyagawa T, Duan J, Desautels A, Erhardt C, Hesla PE, Poli F, Frauscher B, Jeong JH, Lee SP, Ton TG, Kvale M, Kolesar L, Dobrovolná M, Nepom GT, Salomon D, Wichmann HE, Rouleau GA, Gieger C, Levinson DF, Gejman PV, Meitinger T, Young T, Peppard P, Tokunaga K, Kwok PY, Risch N, Mignot E. Hallmayer J, et al. Among authors: poli f. Nat Genet. 2009 Jun;41(6):708-11. doi: 10.1038/ng.372. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412176 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: poli f. PLoS Genet. 2013;9(2):e1003270. doi: 10.1371/journal.pgen.1003270. Epub 2013 Feb 14. PLoS Genet. 2013. PMID: 23459209 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: poli f. Sleep. 2012 Sep 1;35(9):1247-55F. doi: 10.5665/sleep.2080. Sleep. 2012. PMID: 22942503 Free PMC article.
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: poli f. 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.
DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe.
Tafti M, Hor H, Dauvilliers Y, Lammers GJ, Overeem S, Mayer G, Javidi S, Iranzo A, Santamaria J, Peraita-Adrados R, Vicario JL, Arnulf I, Plazzi G, Bayard S, Poli F, Pizza F, Geisler P, Wierzbicka A, Bassetti CL, Mathis J, Lecendreux M, Donjacour CE, van der Heide A, Heinzer R, Haba-Rubio J, Feketeova E, Högl B, Frauscher B, Benetó A, Khatami R, Cañellas F, Pfister C, Scholz S, Billiard M, Baumann CR, Ercilla G, Verduijn W, Claas FH, Dubois V, Nowak J, Eberhard HP, Pradervand S, Hor CN, Testi M, Tiercy JM, Kutalik Z. Tafti M, et al. Among authors: poli f. Sleep. 2014 Jan 1;37(1):19-25. doi: 10.5665/sleep.3300. Sleep. 2014. PMID: 24381371 Free PMC article.
Complex movement disorders at disease onset in childhood narcolepsy with cataplexy.
Plazzi G, Pizza F, Palaia V, Franceschini C, Poli F, Moghadam KK, Cortelli P, Nobili L, Bruni O, Dauvilliers Y, Lin L, Edwards MJ, Mignot E, Bhatia KP. Plazzi G, et al. Among authors: poli f. Brain. 2011 Dec;134(Pt 12):3477-89. doi: 10.1093/brain/awr244. Epub 2011 Sep 19. Brain. 2011. PMID: 21930661 Free PMC article.
540 results