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SMPD1 variants do not have a major role in rapid eye movement sleep behavior disorder.
Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P; 23andMe Research Team; Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, Gigli GL, Valente M, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, De Cock VC, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Rudakou U, et al. Among authors: plazzi g. Neurobiol Aging. 2020 Sep;93:142.e5-142.e7. doi: 10.1016/j.neurobiolaging.2020.04.005. Epub 2020 Apr 18. Neurobiol Aging. 2020. PMID: 32409254
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: plazzi g. 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
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: plazzi g. 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.
504 results