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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
CSF hypocretin/orexin levels in narcolepsy and other neurological conditions.
Ripley B, Overeem S, Fujiki N, Nevsimalova S, Uchino M, Yesavage J, Di Monte D, Dohi K, Melberg A, Lammers GJ, Nishida Y, Roelandse FW, Hungs M, Mignot E, Nishino S. Ripley B, et al. Among authors: nevsimalova s. Neurology. 2001 Dec 26;57(12):2253-8. doi: 10.1212/wnl.57.12.2253. Neurology. 2001. PMID: 11756606
Hypocretin deficiency in Prader-Willi syndrome.
Nevsimalova S, Vankova J, Stepanova I, Seemanova E, Mignot E, Nishino S. Nevsimalova S, et al. Eur J Neurol. 2005 Jan;12(1):70-2. doi: 10.1111/j.1468-1331.2004.00969.x. Eur J Neurol. 2005. PMID: 15613151
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: nevsimalova s. 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.
185 results