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Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW, Hack RJ, Duering M, Gravesteijn G, Dauwerse JG, Overzier M, van den Akker EB, Slagboom E, Holstege H, Nho K, Saykin A, Dichgans M, Malik R, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: lesnik oberstein saj. Neurology. 2020 Sep 29;95(13):e1835-e1843. doi: 10.1212/WNL.0000000000010525. Epub 2020 Jul 30. Neurology. 2020. PMID: 32732295 Free PMC article.
Cerebral microbleeds in CADASIL.
Lesnik Oberstein SA, van den Boom R, van Buchem MA, van Houwelingen HC, Bakker E, Vollebregt E, Ferrari MD, Breuning MH, Haan J; Dutch CADASIL Research Group. Lesnik Oberstein SA, et al. Neurology. 2001 Sep 25;57(6):1066-70. doi: 10.1212/wnl.57.6.1066. Neurology. 2001. PMID: 11571335
Incipient CADASIL.
Lesnik Oberstein SA, van den Boom R, Middelkoop HA, Ferrari MD, Knaap YM, van Houwelingen HC, Breuning MH, van Buchem MA, Haan J. Lesnik Oberstein SA, et al. Arch Neurol. 2003 May;60(5):707-12. doi: 10.1001/archneur.60.5.707. Arch Neurol. 2003. PMID: 12756134
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.
Lesnik Oberstein SA, van Duinen SG, van den Boom R, Maat-Schieman ML, van Buchem MA, van Houwelingen HC, Hegeman-Kleinn IM, Ferrari MD, Breuning MH, Haan J. Lesnik Oberstein SA, et al. Acta Neuropathol. 2003 Aug;106(2):107-11. doi: 10.1007/s00401-003-0701-6. Epub 2003 May 17. Acta Neuropathol. 2003. PMID: 12756589
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
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. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
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