Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

52 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: lesnik oberstein saj. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model.
Oliveira DV, Coupland KG, Shao W, Jin S, Del Gaudio F, Wang S, Fox R, Rutten JW, Sandin J, Zetterberg H, Lundkvist J, Lesnik Oberstein SA, Lendahl U, Karlström H. Oliveira DV, et al. Among authors: lesnik oberstein sa. EMBO Mol Med. 2023 Feb 8;15(2):e16556. doi: 10.15252/emmm.202216556. Epub 2022 Dec 16. EMBO Mol Med. 2023. PMID: 36524456 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.
Neurofibromas in LZTR1 schwannomatosis.
Groen JL, Moghadasi S, Spruijt L, Korpershoek E, van Ierland Y, van Wezel JT, van Duinen S, Malessy MJA, Lesnik Oberstein SAJ. Groen JL, et al. Among authors: lesnik oberstein saj. Clin Genet. 2022 May;101(5-6):571-572. doi: 10.1111/cge.14121. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35178712 No abstract available.
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R, Brandão RD, Tserpelis D, van Roozendaal CEP, van Oosterhoud CN, Claes KBM, Paulussen ADC, Sinnema M, Vreeburg M, van der Schoot V, Stumpel CTRM, Broen MPG, Spruijt L, Jongmans MCJ, Lesnik Oberstein SAJ, Plomp AS, Misra-Isrie M, Duijkers FA, Louwers MJ, Szklarczyk R, Derks KWJ, Brunner HG, van den Wijngaard A, van Geel M, Blok MJ. Koster R, et al. Among authors: lesnik oberstein saj. NPJ Genom Med. 2021 Nov 15;6(1):95. doi: 10.1038/s41525-021-00258-w. NPJ Genom Med. 2021. PMID: 34782607 Free PMC article.
52 results