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

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

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation von 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

Volltext

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

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

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

Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL von Gravesteijn, Gido, Rutten, Julie W, Cerfontaine, Minne N, Hack, Remco J, Liao, Yi-Chu, Jolly, Amy A, Guey, Stéphanie, Hsu, Shao-Lun, Park, Jae-young, Yuan, Yun, Kopczak, Anna, Rifino, Nicola, Neilson, Sam J, Poggesi, Anna, Shourav, Md Manjurul Islam, Saito, Satoshi, Ishiyama, Hiroyuki, Domínguez Mayoral, Ana, Nogueira, Renata, Muiño, Elena, Andersen, Pia, De Stefano, Nicola, Santo, Gustavo, Sukhonpanich, Nontapat, Mele, Francesco, Park, Ashley, Lee, Jung Seok, Rodríguez-Girondo, Mar, Vonk, Sebastiaan J. J, Brodtmann, Amy, Börjesson-Hanson, Anne, Pantoni, Leonardo, Fernández-Cadenas, Israel, Silva, Ana Rita, Montanaro, Vinícus V. A, Kalaria, Rajesh N, Lopergolo, Diego, Ihara, Masafumi, Meschia, James F, Muir, Keith W, Bersano, Anna, Pescini, Francesca, Duering, Marco, Choi, Jay Chol, Ling, Chen, Kim, Hyunjin, Markus, Hugh S, Chabriat, Hugues, Lee, Yi-Chung, Lesnik Oberstein, Saskia A. J

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

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations von 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.

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

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 s... 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, Oberstein, Saskia A. J. Lesnik

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

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

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

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

Lacunar infarcts are the main correlate with cognitive dysfunction in cadasil von LIEM, Michael K, VAN DER GROND, Jeroen, HAAN, Joost, BOOM, Rivka Van Den, FERRARI, Michel D, KNAAP, Yvette M, BREUNING, Martijn H, VAN BUCHEM, Mark A, MIDDELKOOP, Huub A. M, OBERSTEIN, Saskia A. J. Lesnik

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

CADASIL and migraine: A narrative review von Liem, Michael K, Oberstein, Saskia AJ Lesnik, van der Grond, Jeroen, Ferrari, Michel D, Haan, Joost

Volltext