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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: hegeman im. 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: hegeman im. Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18. Stroke. 2022. PMID: 35300531 Free PMC article.
Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.
Koeks Z, Janson AA, Beekman C, Signorelli M, van Duyvenvoorde HA, van den Bergen JC, Hooijmans MT, Alleman I, Hegeman IM, Verschuuren JJGM, V Deutekom JC, Spitali P, Datson NA, Niks EH. Koeks Z, et al. Among authors: hegeman im. Sci Rep. 2021 Mar 15;11(1):5952. doi: 10.1038/s41598-021-84863-w. Sci Rep. 2021. PMID: 33723284 Free PMC article.
Hypocretin (orexin) loss in Parkinson's disease.
Fronczek R, Overeem S, Lee SY, Hegeman IM, van Pelt J, van Duinen SG, Lammers GJ, Swaab DF. Fronczek R, et al. Among authors: hegeman im. Brain. 2007 Jun;130(Pt 6):1577-85. doi: 10.1093/brain/awm090. Epub 2007 Apr 30. Brain. 2007. PMID: 17470494
Hypocretin (orexin) loss and sleep disturbances in Parkinson's Disease.
Fronczek R, Overeem S, Lee SY, Hegeman IM, van Pelt J, van Duinen SG, Lammers GJ, Swaab DF. Fronczek R, et al. Among authors: hegeman im. Brain. 2008 Jan;131(Pt 1):e88. doi: 10.1093/brain/awm222. Epub 2007 Sep 26. Brain. 2008. PMID: 17898003 No abstract available.
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Rutten JW, Klever RR, Hegeman IM, Poole DS, Dauwerse HG, Broos LA, Breukel C, Aartsma-Rus AM, Verbeek JS, van der Weerd L, van Duinen SG, van den Maagdenberg AM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: hegeman im. Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1. Acta Neuropathol Commun. 2015. PMID: 26715087 Free PMC article.