Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
Di Donato, Ilaria, Bianchi, Silvia, De Stefano, Nicola, Dichgans, Martin, Dotti, Maria Teresa, Duering, Marco, Jouvent, Eric, Korczyn, Amos D, Lesnik-Oberstein, Saskia A J, Malandrini, Alessandro, Markus, Hugh S, Pantoni, Leonardo, Penco, Silvana, Rufa, Alessandra, Sinanović, Osman, Stojanov, Dragan, Federico, Antonio
Published in BMC medicine (24.02.2017)
Published in BMC medicine (24.02.2017)
Get full text
Journal Article
Accuracy of sonography for non‐invasive detection of ovarian and deep endometriosis using #Enzian classification: prospective multicenter diagnostic accuracy study
Montanari, E., Bokor, A., Szabó, G., Kondo, W., Trippia, C. H., Malzoni, M., Di Giovanni, A., Tinneberg, H. R., Oberstein, A., Rocha, R. M., Leonardi, M., Condous, G., Alsalem, H., Keckstein, J., Hudelist, G.
Published in Ultrasound in obstetrics & gynecology (01.03.2022)
Published in Ultrasound in obstetrics & gynecology (01.03.2022)
Get full text
Journal Article
Translational models for vascular cognitive impairment: a review including larger species
Hainsworth, Atticus H, Allan, Stuart M, Boltze, Johannes, Cunningham, Catriona, Farris, Chad, Head, Elizabeth, Ihara, Masafumi, Isaacs, Jeremy D, Kalaria, Raj N, Lesnik Oberstein, Saskia A M J, Moss, Mark B, Nitzsche, Björn, Rosenberg, Gary A, Rutten, Julie W, Salkovic-Petrisic, Melita, Troen, Aron M
Published in BMC medicine (25.01.2017)
Published in BMC medicine (25.01.2017)
Get full text
Journal Article
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
Rutten, Julie W., Van Eijsden, Bastian J., Duering, Marco, Jouvent, Eric, Opherk, Christian, Pantoni, Leonardo, Federico, Antonio, Dichgans, Martin, Markus, Hugh S., Chabriat, Hugues, Lesnik Oberstein, Saskia A. J.
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
Get full text
Journal Article
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept
Rutten, Julie W, Dauwerse, Hans G, Peters, Dorien J M, Goldfarb, Andrew, Venselaar, Hanka, Haffner, Christof, van Ommen, Gert-Jan B, Aartsma-Rus, Annemieke M, Lesnik Oberstein, Saskia A J
Published in Brain (London, England : 1878) (01.04.2016)
Published in Brain (London, England : 1878) (01.04.2016)
Get full text
Journal Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, Belzen, Martine J., Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Published in Annals of clinical and translational neurology (01.11.2016)
Published in Annals of clinical and translational neurology (01.11.2016)
Get full text
Journal Article
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature
Gravesteijn, Gido, Hack, Remco J., Mulder, Aat A., Cerfontaine, Minne N., Doorn, Remco, Hegeman, Ingrid M., Jost, Carolina R., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.
Published in Neuropathology and applied neurobiology (01.02.2022)
Published in Neuropathology and applied neurobiology (01.02.2022)
Get full text
Journal Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Vanderver, Adeline, Tonduti, Davide, Kahn, Ilana, Schmidt, Johanna, Medne, Livija, Vento, Jodie, Chapman, Kimberly A., Lanpher, Brendan, Pearl, Phillip, Gropman, Andrea, Lourenco, Charles, Bamforth, John-Steven, Sharpe, Cynthia, Pineda, Mercédes, Schallner, Jens, Bodamer, Olaf, Orcesi, Simona, Oberstein, Saskia A. J. Lesnik, Sistermans, Erik A., Yntema, Helger G., Bonnemann, Carsten, Waldman, Amy T., van der Knaap, Marjo S.
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
Get full text
Journal Article
Serum Neurofilament light correlates with CADASIL disease severity and survival
Gravesteijn, Gido, Rutten, Julie W., Verberk, Inge M. W., Böhringer, Stefan, Liem, Michael K., Grond, Jeroen, Aartsma‐Rus, Annemieke, Teunissen, Charlotte E., Lesnik Oberstein, Saskia A. J.
Published in Annals of clinical and translational neurology (01.01.2019)
Published in Annals of clinical and translational neurology (01.01.2019)
Get full text
Journal Article
Commentary to: Masoli et al. Clinical Outcomes of CADASIL-Associated NOTCH3 mutations in 451,424 European Ancestry Community Volunteers. (Translational Stroke Research Oct 2018)
Rutten, J. W., van den Akker, E. B., Lesnik Oberstein, S. A. J.
Published in Translational stroke research (01.10.2019)
Published in Translational stroke research (01.10.2019)
Get full text
Journal Article
A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Knijnenburg, J, Oberstein, S A J Lesnik, Frei, K, Lucas, T, Gijsbers, A C J, Ruivenkamp, C A L, Tanke, H J, Szuhai, K
Published in Journal of medical genetics (01.06.2009)
Published in Journal of medical genetics (01.06.2009)
Get full text
Journal Article
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice
Gravesteijn, Gido, Munting, Leon P., Overzier, Maurice, Mulder, Aat A., Hegeman, Ingrid, Derieppe, Marc, Koster, Abraham J., van Duinen, Sjoerd G., Meijer, Onno C., Aartsma-Rus, Annemieke, van der Weerd, Louise, Jost, Carolina R., van den Maagdenberg, Arn M. J. M., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.
Published in Translational stroke research (01.06.2020)
Published in Translational stroke research (01.06.2020)
Get full text
Journal Article
Neurofibromas in LZTR1 schwannomatosis
Groen, Justus L., Moghadasi, Setareh, Spruijt, Liesbeth, Korpershoek, Esther, Ierland, Yvette, Wezel, J. Tom, Duinen, Sjoerd, Malessy, Martijn J. A., Lesnik Oberstein, Saskia A.J.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
Get full text
Journal Article
MRI correlates of cognitive decline in CADASIL: a 7-year follow-up study
Liem, M K, Lesnik Oberstein, S A J, Haan, J, van der Neut, I L, Ferrari, M D, van Buchem, M A, Middelkoop, H A M, van der Grond, J
Published in Neurology (13.01.2009)
Published in Neurology (13.01.2009)
Get more information
Journal Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation
Rutten, Julie W, Klever, Roselin R, Hegeman, Ingrid M, Poole, Dana S, Dauwerse, Hans G, Broos, Ludo A M, Breukel, Cor, Aartsma-Rus, Annemieke M, Verbeek, J Sjef, van der Weerd, Louise, van Duinen, Sjoerd G, van den Maagdenberg, Arn M J M, Lesnik Oberstein, Saskia A J
Published in Acta neuropathologica communications (29.12.2015)
Published in Acta neuropathologica communications (29.12.2015)
Get full text
Journal Article
Correction: 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
Rutten, Julie W., Van Eijsden, Bastian J., Duering, Marco, Jouvent, Eric, Opherk, Christian, Pantoni, Leonardo, Federico, Antonio, Dichgans, Martin, Markus, Hugh S., Chabriat, Hugues, Oberstein, Saskia A. J. Lesnik
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
Get full text
Journal Article
Peters Plus Syndrome Is a New Congenital Disorder of Glycosylation and Involves Defective O-Glycosylation of Thrombospondin Type 1 Repeats
Hess, Daniel, Keusch, Jeremy J., Oberstein, Saskia A. Lesnik, Hennekam, Raoul C.M., Hofsteenge, Jan
Published in The Journal of biological chemistry (21.03.2008)
Published in The Journal of biological chemistry (21.03.2008)
Get full text
Journal Article
Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans
Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G., Terwindt, Gisela M., Lesnik Oberstein, Saskia A.J.
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
Get full text
Journal Article
APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL
Gesierich, Benno, Opherk, Christian, Rosand, Jonathan, Gonik, Mariya, Malik, Rainer, Jouvent, Eric, Hervé, Dominique, Adib-Samii, Poneh, Bevan, Steve, Pianese, Luigi, Silvestri, Serena, Dotti, Maria T, De Stefano, Nicola, van der Grond, Jeroen, Boon, Elles M J, Pescini, Francesca, Rost, Natalia, Pantoni, Leonardo, Lesnik Oberstein, Saskia A, Federico, Antonio, Ragno, Michele, Markus, Hugh S, Tournier-Lasserve, Elisabeth, Chabriat, Hugues, Dichgans, Martin, Duering, Marco, Ewers, Michael
Published in Journal of cerebral blood flow and metabolism (01.01.2016)
Published in Journal of cerebral blood flow and metabolism (01.01.2016)
Get full text
Journal Article