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Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Oberstein SAJL. Rutten JW, et al. Among authors: markus hs. Genet Med. 2019 Aug;21(8):1895. doi: 10.1038/s41436-018-0306-z. Genet Med. 2019. PMID: 30237574 Free PMC article.
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.
International Stroke Genetics Consortium (ISGC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bellenguez C, Bevan S, Gschwendtner A, Spencer CC, Burgess AI, Pirinen M, Jackson CA, Traylor M, Strange A, Su Z, Band G, Syme PD, Malik R, Pera J, Norrving B, Lemmens R, Freeman C, Schanz R, James T, Poole D, Murphy L, Segal H, Cortellini L, Cheng YC, Woo D, Nalls MA, Müller-Myhsok B, Meisinger C, Seedorf U, Ross-Adams H, Boonen S, Wloch-Kopec D, Valant V, Slark J, Furie K, Delavaran H, Langford C, Deloukas P, Edkins S, Hunt S, Gray E, Dronov S, Peltonen L, Gretarsdottir S, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boncoraglio GB, Parati EA, Attia J, Holliday E, Levi C, Franzosi MG, Goel A, Helgadottir A, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Jankowski J, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood NW, Worrall BB, Kittner SJ, Mitchell BD, Kissela B, Meschia JF, Thijs V, Lindgren A, Macleod MJ, Slowik A, Walters M, Rosand J, Sharma P, Farrall M, Sudlow CL, Rothwell PM, Dichgans M, Donnelly P, Markus HS. International Stroke Genetics Consortium (ISGC), et al. Among authors: markus hs. Nat Genet. 2012 Feb 5;44(3):328-33. doi: 10.1038/ng.1081. Nat Genet. 2012. PMID: 22306652 Free PMC article.
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Müller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H, Dichgans M. Opherk C, et al. Among authors: markus hs. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
Effect of genetic variants associated with plasma homocysteine levels on stroke risk.
Cotlarciuc I, Malik R, Holliday EG, Ahmadi KR, Paré G, Psaty BM, Fornage M, Hasan N, Rinne PE, Ikram MA, Markus HS, Rosand J, Mitchell BD, Kittner SJ, Meschia JF, van Meurs JB, Uitterlinden AG, Worrall BB, Dichgans M, Sharma P; METASTROKE and the International Stroke Genetics Consortium. Cotlarciuc I, et al. Among authors: markus hs. Stroke. 2014 Jul;45(7):1920-4. doi: 10.1161/STROKEAHA.114.005208. Epub 2014 May 20. Stroke. 2014. PMID: 24846872 Free PMC article.
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Debette S, Kamatani Y, Metso TM, Kloss M, Chauhan G, Engelter ST, Pezzini A, Thijs V, Markus HS, Dichgans M, Wolf C, Dittrich R, Touzé E, Southerland AM, Samson Y, Abboud S, Béjot Y, Caso V, Bersano A, Gschwendtner A, Sessa M, Cole J, Lamy C, Medeiros E, Beretta S, Bonati LH, Grau AJ, Michel P, Majersik JJ, Sharma P, Kalashnikova L, Nazarova M, Dobrynina L, Bartels E, Guillon B, van den Herik EG, Fernandez-Cadenas I, Jood K, Nalls MA, De Leeuw FE, Jern C, Cheng YC, Werner I, Metso AJ, Lichy C, Lyrer PA, Brandt T, Boncoraglio GB, Wichmann HE, Gieger C, Johnson AD, Böttcher T, Castellano M, Arveiler D, Ikram MA, Breteler MM, Padovani A, Meschia JF, Kuhlenbäumer G, Rolfs A, Worrall BB; International Stroke Genetics Consortium; Ringelstein EB, Zelenika D, Tatlisumak T, Lathrop M, Leys D, Amouyel P, Dallongeville J; CADISP Group. Debette S, et al. Among authors: markus hs. Nat Genet. 2015 Jan;47(1):78-83. doi: 10.1038/ng.3154. Epub 2014 Nov 24. Nat Genet. 2015. PMID: 25420145 Free PMC article.
APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL.
Gesierich B, Opherk C, Rosand J, Gonik M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, van der Grond J, Boon EM, Pescini F, Rost N, Pantoni L, Oberstein SA, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Chabriat H, Dichgans M, Duering M, Ewers M. Gesierich B, et al. Among authors: markus hs. J Cereb Blood Flow Metab. 2016 Jan;36(1):199-203. doi: 10.1038/jcbfm.2015.85. J Cereb Blood Flow Metab. 2016. PMID: 25920955 Free PMC article.
Common NOTCH3 Variants and Cerebral Small-Vessel Disease.
Rutten-Jacobs LC, Traylor M, Adib-Samii P, Thijs V, Sudlow C, Rothwell PM, Boncoraglio G, Dichgans M, Bevan S, Meschia J, Levi C, Rost NS, Rosand J, Hassan A, Markus HS. Rutten-Jacobs LC, et al. Among authors: markus hs. Stroke. 2015 Jun;46(6):1482-7. doi: 10.1161/STROKEAHA.114.008540. Epub 2015 May 7. Stroke. 2015. PMID: 25953367 Free PMC article. Clinical Trial.
Differences in Common Genetic Predisposition to Ischemic Stroke by Age and Sex.
Traylor M, Rutten-Jacobs LC, Holliday EG, Malik R, Sudlow C, Rothwell PM, Maguire JM, Koblar SA, Bevan S, Boncoraglio G, Dichgans M, Levi C, Lewis CM, Markus HS. Traylor M, et al. Among authors: markus hs. Stroke. 2015 Nov;46(11):3042-7. doi: 10.1161/STROKEAHA.115.009816. Epub 2015 Oct 6. Stroke. 2015. PMID: 26443828 Free PMC article.
Genetic Associations With White Matter Hyperintensities Confer Risk of Lacunar Stroke.
Traylor M, Rutten-Jacobs LC, Thijs V, Holliday EG, Levi C, Bevan S, Malik R, Boncoraglio G, Sudlow C, Rothwell PM, Dichgans M, Markus HS. Traylor M, et al. Among authors: markus hs. Stroke. 2016 May;47(5):1174-9. doi: 10.1161/STROKEAHA.115.011625. Epub 2016 Apr 12. Stroke. 2016. PMID: 27073246 Free PMC article.
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