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Page 1
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: liem mk. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
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. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
7 T MRI reveals diffuse iron deposition in putamen and caudate nucleus in CADASIL.
Liem MK, Lesnik Oberstein SA, Versluis MJ, Maat-Schieman ML, Haan J, Webb AG, Ferrari MD, van Buchem MA, van der Grond J. Liem MK, et al. J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1180-5. doi: 10.1136/jnnp-2012-302545. Epub 2012 Aug 25. J Neurol Neurosurg Psychiatry. 2012. PMID: 22923513
Serum Neurofilament light correlates with CADASIL disease severity and survival.
Gravesteijn G, Rutten JW, Verberk IMW, Böhringer S, Liem MK, van der Grond J, Aartsma-Rus A, Teunissen CE, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: liem mk. Ann Clin Transl Neurol. 2018 Nov 20;6(1):46-56. doi: 10.1002/acn3.678. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656183 Free PMC article.
15 results