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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: nevsimalova s. 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.
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains.
Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E. Peyron C, et al. Among authors: nevsimalova s. Nat Med. 2000 Sep;6(9):991-7. doi: 10.1038/79690. Nat Med. 2000. PMID: 10973318
NREM sleep alterations in narcolepsy/cataplexy.
Ferri R, Miano S, Bruni O, Vankova J, Nevsimalova S, Vandi S, Montagna P, Ferini-Strambi L, Plazzi G. Ferri R, et al. Among authors: nevsimalova s. Clin Neurophysiol. 2005 Nov;116(11):2675-84. doi: 10.1016/j.clinph.2005.08.004. Epub 2005 Oct 10. Clin Neurophysiol. 2005. PMID: 16221567
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
Kemlink D, Plazzi G, Vetrugno R, Provini F, Polo O, Stiasny-Kolster K, Oertel W, Nevsimalova S, Sonka K, Högl B, Frauscher B, Hadjigeorgiou GM, Pramstaller PP, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J, Montagna P. Kemlink D, et al. Among authors: nevsimalova s. Neurogenetics. 2008 May;9(2):75-82. doi: 10.1007/s10048-007-0113-1. Epub 2008 Jan 10. Neurogenetics. 2008. PMID: 18193462 Free PMC article.
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J. Schormair B, et al. Among authors: nevsimalova s. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27. Nat Genet. 2008. PMID: 18660810
185 results