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107 results

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Page 1
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: boon em. 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.
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: boon em. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: boon em. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.
Lesnik Oberstein SA, Maat-Schieman ML, Boon EM, Haan J, Breuning MH, van Duinen SG. Lesnik Oberstein SA, et al. Among authors: boon em. Acta Neuropathol. 2008 Mar;115(3):369-70. doi: 10.1007/s00401-007-0335-1. Epub 2008 Jan 12. Acta Neuropathol. 2008. PMID: 18196251 Free PMC article. No abstract available.
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: boon em. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. de Vries B, et al. Among authors: boon em. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Arch Neurol. 2009. PMID: 19139306
Heterozygous TREX1 mutations in early-onset cerebrovascular disease.
Pelzer N, de Vries B, Boon EM, Kruit MC, Haan J, Ferrari MD, van den Maagdenberg AM, Terwindt GM. Pelzer N, et al. Among authors: boon em. J Neurol. 2013 Aug;260(8):2188-90. doi: 10.1007/s00415-013-7050-8. Epub 2013 Jul 24. J Neurol. 2013. PMID: 23881107 No abstract available.
107 results