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Association of NOTCH3 Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL.
Cerfontaine MN, Hack RJ, Gesierich B, Duering M, Witjes-Ané MW, Rodríguez-Girondo M, Gravesteijn G, Rutten J, Lesnik Oberstein SAJ. Cerfontaine MN, et al. Among authors: lesnik oberstein saj. Neurology. 2024 May 28;102(10):e209310. doi: 10.1212/WNL.0000000000209310. Epub 2024 May 7. Neurology. 2024. PMID: 38713890 Free PMC article.
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.
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G, Hack RJ, Mulder AA, Cerfontaine MN, van Doorn R, Hegeman IM, Jost CR, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: lesnik oberstein saj. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30. Neuropathol Appl Neurobiol. 2022. PMID: 34297860 Free PMC article.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Hack RJ, Gravesteijn G, Cerfontaine MN, Hegeman IM, Mulder AA, Lesnik Oberstein SAJ, Rutten JW. Hack RJ, et al. Among authors: lesnik oberstein saj. Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18. Stroke. 2022. PMID: 35300531 Free PMC 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. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
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. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
52 results