Cognition, mood and behavior in CADASIL

por Chabriat, Hugues, Lesnik Oberstein, Saskia
Publicado 2022

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonanc...

por Hack, Remco J., Gravesteijn, Gido, Cerfontaine, Minne N., Hegeman, Ingrid M., Mulder, Aat A., Lesnik Oberstein, Saskia A.J., Rutten, Julie W.
Publicado 2022

No vessel wall abnormalities in a human foetus with a NOTCH3 mutation

por Lesnik Oberstein, Saskia A. J., Maat–Schieman, Marion L. C., Boon, Elles M. J., Haan, Joost, Breuning, Martijn H., van Duinen, Sjoerd G.
Publicado 2008

Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population

por 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
Publicado 2020

Engineered 3D vessel-on-chip using hiPSC-derived endothelial- and vascular smooth muscle cells

por 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.
Publicado 2021

Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction

por 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
Publicado 2022

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

por Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Publicado 2016

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...

por 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.
Publicado 2018

NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature

por Gravesteijn, Gido, Hack, Remco J., Mulder, Aat A., Cerfontaine, Minne N., van Doorn, Remco, Hegeman, Ingrid M., Jost, Carolina R., Rutten, Julie W., Lesnik Oberstein, Saskia A. J.
Publicado 2021

Serum Neurofilament light correlates with CADASIL disease severity and survival

por Gravesteijn, Gido, Rutten, Julie W., Verberk, Inge M. W., Böhringer, Stefan, Liem, Michael K., van der Grond, Jeroen, Aartsma‐Rus, Annemieke, Teunissen, Charlotte E., Lesnik Oberstein, Saskia A. J.
Publicado 2018

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes

por 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.
Publicado 2022

Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model

por 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
Publicado 2022

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance

por Rutten, Julie W., Hack, Remco J., Duering, Marco, Gravesteijn, Gido, Dauwerse, Johannes G., Overzier, Maurice, van den Akker, Erik B., Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J.
Publicado 2020

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

por 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
Publicado 2017

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients

por Gravesteijn, Gido, Dauwerse, Johannes G, Overzier, Maurice, Brouwer, Gwendolyn, Hegeman, Ingrid, Mulder, Aat A, Baas, Frank, Kruit, Mark C, Terwindt, Gisela M, van Duinen, Sjoerd G, Jost, Carolina R, Aartsma-Rus, Annemieke, Lesnik Oberstein, Saskia A J, Rutten, Julie W
Publicado 2020

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

por 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.
Publicado 2017

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

por 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.
Publicado 2015

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

por 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.
Publicado 2019

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

por Elfferich, Peter, Verleun-Mooijman, Marja C., Maat-Kievit, J. Anneke, van de Warrenburg, Bart P. C., Abdo, Wilson F., Eshuis, Sylvia A., Leenders, Klaus L., Hovestadt, Ad, Zijlmans, Jan C. M., Stroy, Jan-Pieter M., van Swieten, John C., Boon, Agnita J. W., van Engelen, Klaartje, Verschuuren-Bemelmans, Corien C., Lesnik-Oberstein, Saskia A. J., Tassorelli, Cristina, Lopiano, Leonardo, Bonifati, Vincenzo, Dooijes, Dennis, van Minkelen, Rick
Publicado 2011