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Anzahl der Publikationen: 4
Zeitschriftenartikel
Hack, Remco J.; Gravesteijn, Gido; Cerfontaine, Minne N.; Santcroos, Mark A.; Gatti, Laura; Kopczak, Anna; Bersano, Anna; Duering, Marco; Rutten, Julie W. und Oberstein, Saskia A. J. Lesnik
(2022):
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
In: Brain, Bd. 146, Nr. 7: S. 2913-2927
Rutten, Julie W.; Hack, Remco J.; Duering, Marco; Gravesteijn, Gido; Dauwerse, Johannes G.; Overzier, Maurice; Akker, Erik B. van den; Slagboom, Eline; Holstege, Henne; Nho, Kwangsik; Saykin, Andrew; Dichgans, Martin; Malik, Rainer und Oberstein, Saskia A. J. Lesnik
(2020):
Broad phenotype of cysteine-alteringNOTCH3variants in UK Biobank CADASIL to nonpenetrance.
In: Neurology, Bd. 95, Nr. 13, E1835-E1843
Rutten, Julie W.; Van Eijsden, Bastian J.; Duering, Marco; Jouvent, Eric; Opherk, Christian; Pantoni, Leonardo; Federico, Antonio; Dichgans, Martin; Markus, Hugh S.; Chabriat, Hugues und Oberstein, Saskia A. J. Lesnik
(2019):
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variants are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variants.
In: Genetics in Medicine, Bd. 21, Nr. 3: S. 676-682
Rutten, Julie W.; Dauwerse, Hans G.; Peters, Dorien J. M.; Goldfarb, Andrew; Venselaar, Hanka; Haffner, Christof; Ommen, Gert-Jan B. van; Aartsma-Rus, Annemieke M. und Lesnik Oberstein, Saskia A. J.
(2016):
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
In: Brain, Bd. 139: S. 1123-1135