OpenURL Connection Search

Select item for more details and to access through your institution.

Epilepsy in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Published in:
Cerebrovascular Diseases, 2007, v. 24, n. 2/3, p. 316, doi. 10.1159/000106518
By:
- Haan, Joost;
- Oberstein, Saskia A. J. Lesnik;
- Ferrari, Michel D.
Publication type:
Article
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2913, doi. 10.1093/brain/awac486
By:
- Hack, Remco J;
- Gravesteijn, Gido;
- Cerfontaine, Minne N;
- Santcroos, Mark A;
- Gatti, Laura;
- Kopczak, Anna;
- Bersano, Anna;
- Duering, Marco;
- Rutten, Julie W;
- Oberstein, Saskia A J Lesnik
Publication type:
Article
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
Published in:
2016
By:
- 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.
Publication type:
journal article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
By:
- 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.
Publication type:
Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Published in:
Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0268-1
By:
- 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.;
- Oberstein, Saskia A. J. Lesnik
Publication type:
Article
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
Published in:
2017
By:
- 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
Publication type:
journal article
Translational models for vascular cognitive impairment: a review including larger species.
Published in:
2017
By:
- 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.
Publication type:
journal article
Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms.
Published in:
Journal of Neurology, 2008, v. 255, n. 12, p. 1978, doi. 10.1007/s00415-009-0036-x
By:
- Liem, Michael K.;
- Oberstein, Saskia A. J. Lesnik;
- Vollebregt, Magdalena J.;
- Middelkoop, Huub A. M.;
- van der Grond, Jeroen;
- den Enden, Apollonia T. J. M. Helderman-van
Publication type:
Article
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 1, p. 1, doi. 10.1111/nan.12751
By:
- 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.
Publication type:
Article
No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.
Published in:
2008
By:
- Oberstein, Saskia A. J. Lesnik;
- Maat-Schieman, Marion L. C.;
- Boon, Elles M. J.;
- Haan, Joost;
- Breuning, Martijn H.;
- Van Duinen, Sjoerd G.
Publication type:
Letter
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.
Published in:
Acta Neuropathologica, 2003, v. 106, n. 2, p. 107, doi. 10.1007/s00401-003-0701-6
By:
- Lesnik Oberstein, Saskia A. J.;
- van Duinen, Sjoerd G.;
- van den Boom, Rivka;
- Maat-Schieman, Marion L. C.;
- van Buchem, Mark A.;
- van Houwelingen, Hans C.;
- Hegeman-Kleinn, Ingrid M.;
- Ferrari, Michel D.;
- Breuning, Martijn H.;
- Haan, Joost
Publication type:
Article
Serum Neurofilament light correlates with CADASIL disease severity and survival.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 46, doi. 10.1002/acn3.678
By:
- 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.
Publication type:
Article
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Published in:
Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 844, doi. 10.1002/acn3.344
By:
- Rutten, Julie W.;
- Dauwerse, Hans G.;
- Gravesteijn, Gido;
- Belzen, Martine J.;
- Grond, Jeroen;
- Polke, James M.;
- Bernal‐Quiros, Manuel;
- Lesnik Oberstein, Saskia A. J.
Publication type:
Article
Neurofibromas in LZTR1 schwannomatosis.
Published in:
Clinical Genetics, 2022, v. 101, n. 5/6, p. 571, doi. 10.1111/cge.14121
By:
- Groen, Justus L.;
- Moghadasi, Setareh;
- Spruijt, Liesbeth;
- Korpershoek, Esther;
- Ierland, Yvette van;
- Tom van Wezel, J.;
- Duinen, Sjoerd van;
- Malessy, Martijn J. A.;
- Lesnik Oberstein, Saskia A. J.
Publication type:
Article
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 11, p. 1853, doi. 10.1093/hmg/ddz285
By:
- Gravesteijn, Gido;
- Dauwerse, Johannes G;
- Overzier, Maurice;
- Brouwer, Gwendolyn;
- Hegeman, Ingrid;
- Mulder, Aat A;
- Baas, Frank;
- Kruit, Mark C;
- Terwindt, Gisela M;
- Duinen, Sjoerd G van;
- Jost, Carolina R;
- Aartsma-Rus, Annemieke;
- Oberstein, Saskia A J Lesnik;
- Rutten, Julie W
Publication type:
Article

Found: 15