Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and managem... von 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

Volltext

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 comp... von 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.

Volltext

Translational models for vascular cognitive impairment: a review including larger species von 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

Volltext

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL) von Bugiani, Marianna, Kevelam, Sietske H, Bakels, Hannah S, Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W.M, Abbink, Truus E.M, Lesnik Oberstein, Saskia A.M.J, van der Knaap, Marjo S

Volltext

Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population von Hack, Remco J., Rutten, Julie W., Person, Thomas N., Li, Jiang, Khan, Ayesha, Griessenauer, Christoph J., Abedi, Vida, Lesnik Oberstein, Saskia A.J., Zand, Ramin

Volltext

What's in a Domain? The Role of NOTCH3 EGFr Domains in CADASIL Disease Severity von Hack, Remco, Rutten, Julie, Lesnik Oberstein, Saskia A.J.

Volltext

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature von 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.

Volltext

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept von 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

Volltext

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL von Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, Belzen, Martine J., Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.

Volltext

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management von Guey, Stéphanie, Lesnik Oberstein, Saskia A.J., Tournier-Lasserve, Elisabeth, Chabriat, Hugues

Volltext

Cognition, mood and behavior in CADASIL von Chabriat, Hugues, Lesnik Oberstein, Saskia

Volltext

Neurofibromas in LZTR1 schwannomatosis von 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.

Volltext

Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model von Oliveira, Daniel V, Coupland, Kirsten G, Shao, Wenchao, Jin, Shaobo, Del Gaudio, Francesca, Wang, Sailan, Fox, Rhys, Rutten, Julie W, Sandin, Johan, Zetterberg, Henrik, Lundkvist, Johan, Lesnik Oberstein, Saskia AJ, Lendahl, Urban, Karlström, Helena

Volltext

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction von Hack, Remco J, Gravesteijn, Gido, Cerfontaine, Minne N, Santcroos, Mark A, Gatti, Laura, Kopczak, Anna, Bersano, Anna, Duering, Marco, Rutten, Julie W, Lesnik Oberstein, Saskia A J

Volltext

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes von Hack, Remco J., Cerfontaine, Minne N., Gravesteijn, Gido, Tap, Stephan, Hafkemeijer, Anne, van der Grond, Jeroen, Witjes-Ané, Marie-Noëlle, Baas, Frank, Rutten, Julie W., Lesnik Oberstein, Saskia A.J.

Volltext

Engineered 3D vessel-on-chip using hiPSC-derived endothelial- and vascular smooth muscle cells von Vila Cuenca, Marc, Cochrane, Amy, van den Hil, Francijna E., de Vries, Antoine A.F., Lesnik Oberstein, Saskia A.J., Mummery, Christine L., Orlova, Valeria V.

Volltext

Association of NOTCH3 Variant Risk Category With 2-Year Clinical and Radiologic Small Vessel Disease Progression in Patients With CADASIL von Cerfontaine, Minne N, Hack, Remco J, Gesierich, Benno, Duering, Marco, Witjes-Ané, Marie-Noëlle W, Rodríguez-Girondo, Mar, Gravesteijn, Gido, Rutten, Julie, Lesnik Oberstein, Saskia A J

Volltext

Serum Neurofilament light correlates with CADASIL disease severity and survival von 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.

Volltext

Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice von 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.

Volltext

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans von 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.

Volltext