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24 results

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Page 1
eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor H, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. Bosio M, et al. Among authors: hor h. Hum Mutat. 2019 Jul;40(7):865-878. doi: 10.1002/humu.23772. Epub 2019 May 21. Hum Mutat. 2019. PMID: 31026367 Free PMC article.
Physiology. How much sleep do we need?
Hor H, Tafti M. Hor H, et al. Science. 2009 Aug 14;325(5942):825-6. doi: 10.1126/science.1178713. Science. 2009. PMID: 19679803 No abstract available.
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF. Kuhlenbäumer G, et al. Among authors: hor h. Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25. Nat Genet. 2005. PMID: 16186812
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Schulte EC, et al. Among authors: hor h. Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604855 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: hor h. Sleep. 2014 Jan 1;37(1):19-25. doi: 10.5665/sleep.3300. Sleep. 2014. PMID: 24381371 Free PMC article.
Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients.
Cvetkovic-Lopes V, Bayer L, Dorsaz S, Maret S, Pradervand S, Dauvilliers Y, Lecendreux M, Lammers GJ, Donjacour CE, Du Pasquier RA, Pfister C, Petit B, Hor H, Mühlethaler M, Tafti M. Cvetkovic-Lopes V, et al. Among authors: hor h. J Clin Invest. 2010 Mar;120(3):713-9. doi: 10.1172/JCI41366. Epub 2010 Feb 15. J Clin Invest. 2010. PMID: 20160349 Free PMC article.
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy.
Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, Donjacour CE, Iranzo A, Santamaria J, Peraita Adrados R, Vicario JL, Overeem S, Arnulf I, Theodorou I, Jennum P, Knudsen S, Bassetti C, Mathis J, Lecendreux M, Mayer G, Geisler P, Benetó A, Petit B, Pfister C, Bürki JV, Didelot G, Billiard M, Ercilla G, Verduijn W, Claas FH, Vollenweider P, Waeber G, Waterworth DM, Mooser V, Heinzer R, Beckmann JS, Bergmann S, Tafti M. Hor H, et al. Nat Genet. 2010 Sep;42(9):786-9. doi: 10.1038/ng.647. Epub 2010 Aug 15. Nat Genet. 2010. PMID: 20711174
24 results