Saskia A.J. Lesnik Oberstein

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades

Rivka van den Boom, Saskia A.J. Lesnik Oberstein, Michel D. Ferrari et al. · Radiology · 2003 · 224 citations

Cerebral microbleeds in CADASIL

Saskia A.J. Lesnik Oberstein, Rivka van den Boom, Mark A. van Buchem et al. · Neurology · 2001 · 219 citations

Family Members, Cerebrovascular Disease, Brain Lesion +23

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

Saskia A.J. Lesnik Oberstein, Marjolein Kriek, Stefan J. White et al. · The American Journal of Human Genetics · 2006 · 201 citations · Full text

Mendelian Disorder, Disease Mechanism, Syndrome Is +10

Archetypal <i>NOTCH3</i> mutations frequent in public exome: implications for CADASIL

Julie W. Rutten, Hans G. Dauwerse, Gido Gravesteijn et al. · Annals of Clinical and Translational Neurology · 2016 · 196 citations · Full text

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34 pathogenic variant

Julie W. Rutten, Bastian J. Van Eijsden, Marco Duering et al. · Genetics in Medicine · 2018 · 159 citations · Full text