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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
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.
A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
Bendjilali N, Kim H, Weinsheimer S, Guo DE, Kwok PY, Zaroff JG, Sidney S, Lawton MT, McCulloch CE, Koeleman BP, Klijn CJ, Young WL, Pawlikowska L.
Bendjilali N, et al.
PLoS One. 2013 Oct 3;8(10):e71434. doi: 10.1371/journal.pone.0071434. eCollection 2013.
PLoS One. 2013.
PMID: 24098321
Free PMC article.
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Common variants on 9p21.3 are associated with brain arteriovenous malformations with accompanying arterial aneurysms.
Bendjilali N, Nelson J, Weinsheimer S, Sidney S, Zaroff JG, Hetts SW, Segal M, Pawlikowska L, McCulloch CE, Young WL, Kim H.
Bendjilali N, et al.
J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1280-3. doi: 10.1136/jnnp-2013-306461. Epub 2014 Apr 28.
J Neurol Neurosurg Psychiatry. 2014.
PMID: 24777168
Free PMC article.
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Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain.
Kremer PH, Koeleman BP, Pawlikowska L, Weinsheimer S, Bendjilali N, Sidney S, Zaroff JG, Rinkel GJ, van den Berg LH, Ruigrok YM, de Kort GA, Veldink JH, Kim H, Klijn CJ.
Kremer PH, et al.
J Neurol Neurosurg Psychiatry. 2015 May;86(5):524-9. doi: 10.1136/jnnp-2013-307276. Epub 2014 Jul 21.
J Neurol Neurosurg Psychiatry. 2015.
PMID: 25053769
Free PMC article.
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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.
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.
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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.
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.
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